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  1. Vitamin D deficiency is a major health concern as it increases the risk of developing many serious diseases. Recently, the correlation between vitamin D deficiency and multiple sclerosis (MS) is a matter of se...

    Authors: Bushra Alhomsi, Ghalia Aboualchamat and Imad Alkadi

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:32

    Content type: Research

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  2. Protein phosphatase 2A (PP2A) functions as a tumor suppressor in many cancers. Cancerous inhibitor of protein phosphatase 2A (CIP2A) inhibits PP2A proteolytic degradation of c-Myc and enhances cell growth and tum...

    Authors: Roxan E. Shafik, Azza M. Ibrahim, Fadwa Said, Naglaa M. Hassan, Hanan E. Shafik and Hala A. Shokralla

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:31

    Content type: Research

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  3. Canonical wingless-type (Wnt) signaling is a crucial pathway involved in normal hematopoiesis and the self-renewal process of hematopoietic stem cells. Deregulation of this pathway has been associated with dif...

    Authors: Botheina Ahmed Thabet Farweez, Nahela Ahmed Shalaby, Doaa Ahmed Gamal Eissa, Raghda El Sayed Abdel Monem Galal, Nashwa El-khazragy and Shaimaa Abdelmalik Pessar

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:30

    Content type: Research

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  4. Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressi...

    Authors: Muhsin Elmas, Basak Gogus, Banu Değirmenci, Mustafa Solak and J. G. Gleeson

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:29

    Content type: Case Report

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  5. Chromosomal abnormalities in childhood acute lymphoblastic leukemia (ALL) are well-established prognostic markers and useful tools for minimal residual disease (MRD) assessment. This study aimed to stratify hi...

    Authors: Botheina Ahmed Thabet Farweez, Nevine Ahmed Kassim, Mona Fathy Abdelfataah, Naglaa Mostafa Hassan, Doha Elsayed Ahmed Hassnien and Yasmin Nabil El-Sakhawy

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:28

    Content type: Research

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  6. Lung cancer tumorigenesis is mainly due to accumulation of genetic and epigenetic events in the respiratory epithelium. Epigenetic alteration is more frequent than somatic mutation in lung cancer. CpG island m...

    Authors: Mohamed Mostafa Mohamed Ahmed Rizk, Suzan Mohamed Farouk Helal, Ahmed Youssef Shaaban Gad, Doreen Nazeih Assaad Younan and Salma Abd El Maguid Mohamed Ramadan Moemen

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:27

    Content type: Research

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  7. Aneuploidy is one of the most important chromosomal aberrations, which involves an abnormal number of the chromosomes. Trisomy 21 (Down syndrome) and numerical aberrations of the sex chromosomes have a relativ...

    Authors: Mariya Tsvetkova, Mariya Levkova, Snezhinka Tsvetkova, Mari Hachmeriyan, Emil Kovachev and Lyudmila Angelova

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:25

    Content type: Case Report

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  8. Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathological immune activation characterized by clinical signs and symptoms of extreme inflammation. It results from the uninhibited proliferation and ...

    Authors: Mohamed Almalky, Safaa H. A. Saleh, Eman Gamal Baz and Ahmed Elsadek Fakhr

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:24

    Content type: Case Report

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  9. The lack of early diagnostic tools and the development of chemoresistance have made ovarian cancer (OC) one of the deadliest gynaecological cancers. The tumour microenvironment is characterised by the extracel...

    Authors: Nisha Chandran, Mahalaxmi Iyer, Zothan Siama, Balachandar Vellingiri and Arul Narayanasamy

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:23

    Content type: Review

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  10. Diabetic nephropathy (DN) is considered as one of the most serious complications resulting from diabetes mellitus and end-stage of renal failure globally. Up to 40% of diabetic patients will develop DN. The in...

    Authors: Amal Al-Shahat Ibrahim, Manal Mohammad Morsy, Safwat E. Abouhashem, Omnia Aly, Norhan A. Sabbah and Nermin Raafat

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:22

    Content type: Research

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  11. The adipokine chemerin retinoic acid receptor responder protein 2 (RARRES2) has been associated with insulin resistance, type II diabetes mellitus (T2DM), obesity, and metabolic syndrome (MetS). The impact of RAR...

    Authors: Marwa A. Dahpy, Marwa K. Khairallah, Nashwa Mostafa A. Azoz and Ghada M. Ezzat

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:21

    Content type: Research

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  12. Studies have shown a direct association between angiotensin-converting enzyme (ACE) and diabetic neuropathies. As such, ACE gene polymorphisms could be a risk factor for cardiac autonomic neuropathy (CAN) in pati...

    Authors: Muhanad M. Dhumad, Farqad B. Hamdan and Qasim S. Al-Mayah

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:20

    Content type: Research

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  13. The DNA non-homologous end joining repair gene XRCC7 is one of the most important genes in the DNA double-strand break (DSBs) repair. It is supposed that DNA repair gene malfunction is the main risk factor in var...

    Authors: Farnoush Farokhian, Zahra Beyzaei, Mani Ramzi and Bita Geramizadeh

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:19

    Content type: Research

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  14. Numerous association studies have indicated that genetic alterations in genes involved in DNA repair processes are associated with the risk of age-related macular degeneration (ARMD). There is no published stu...

    Authors: Sharareh Kalteh and Mostafa Saadat

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:18

    Content type: Research

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  15. Identifying disease-causing genetic variants in a particular population improves the molecular diagnosis of genetic disorders. National genome databases provide valuable information on this matter. This study ...

    Authors: Shirin Shahbazi

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:17

    Content type: Research

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  16. Osteoporosis is a disease of the bones in which the density of the bones decreases. The prevalence of this disease greatly varies in different populations of the world. Numerous studies have been investigated ...

    Authors: Upendra Yadav, Pradeep Kumar and Vandana Rai

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:15

    Content type: Meta-Analysis

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  17. Strong evidence supports the involvement of inflammation processes in the development and progression of Parkinson’s disease (PD), where increasingly correlations have been identified between genetic variation...

    Authors: Zulvikar Syambani Ulhaq and Cristian Peinado Garcia

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:14

    Content type: Meta-Analysis

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  18. Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused ...

    Authors: Emel Okulu, Ceren D. Durmaz, Gaffari Tunc, Adil Guzel, Nuket Y. Kutlay, Omer Erdeve, Begum Atasay, John A. McGrath, Lu Liu and Saadet Arsan

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:16

    Content type: Case Report

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  19. Many studies have been conducted on the genetic and epigenetic etiology of gestational diabetes mellitus (GDM) in the last two decades because of the disease’s increasing prevalence and role in global diabetes...

    Authors: Tajudeen O. Yahaya, Titilola Salisu, Yusuf B. Abdulrahman and Abdulrazak K. Umar

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:13

    Content type: Review

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  20. The main mechanism of acute coronary syndrome (ACS) is the rupture of atherosclerotic plaques. Matrix metalloproteinases (MMPs) play an important role in the rupture of the vulnerable plaques. MMP secretion is...

    Authors: Wafaa A. Emam, Nader M. M. Ali, Aliaa T. A. Kamel, Mohamed I. M. Eladawy and Nermin Raafat

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:10

    Content type: Research

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  21. Neonatal sepsis is considered as a complicated syndrome, which requires urgent intervention to avoid the unfavorable outcome. Thus, biomarkers that can either distinguish sepsis early or predict sepsis outcome...

    Authors: Rabab F. Salim, Ahmed A. Sobeih and Heba M. Abd El Kareem

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:12

    Content type: Research

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  22. STAG3 is the meiotic component of cohesin and a member of the Cancer Testis Antigen (CTA) family. This gene has been found to be overexpressed in many types of cancer, and recently, its variants have been impl...

    Authors: Inam J. Lafta, Bassam K. Kudhair and Noralhuda N. Alabid

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:9

    Content type: Research

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  23. Congenital heart diseases (CHDs) are the most common congenital anomalies with an estimated prevalence of 8 in 1000 live births. CHDs occur as a result of abnormal embryogenesis of the heart. Congenital heart ...

    Authors: Emmanuel Suluba, Liu Shuwei, Qing Xia and Ally Mwanga

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:11

    Content type: Review

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  24. Long non-coding RNAs (lncRNAs) homeobox (Hox) transcript antisense intergenic RNA (HOTAIR) and HOXA transcript at the distal tip (HOTTIP) have been suggested to be implicated in liver cancer tumorigenesis and ...

    Authors: Fawzy Roshdy, Mohamed M. S. Farag, Eman El-Ahwany, Ola Mahmode, Adel A. Mousa, Mohamed El Talkawy and Faiza Essawy

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:7

    Content type: Research

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  25. Noonan syndrome (NS) is one of the most common RASopathies, with an autosomal dominant inheritance. This disorder is caused by a range of genes belonging to the RAS-MAP kinase (rat sarcoma viral oncogene homol...

    Authors: Ihssane El Bouchikhi, Laila Bouguenouch, Fatima Zohra Moufid, Imane Samri, Fatima Abdouss, Moulay Abdelilah Melhouf, Mohammed Iraqui Houssaini, Khadija Belhassan, Samir Atmani and Karim Ouldim

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:6

    Content type: Research

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  26. Phototherapy is the main therapeutic interference for neonatal hyperbilirubinemia used to escape an exchange transfusion and to decrease the risk of bilirubin-induced encephalopathy (kernikterus). Phototherapy...

    Authors: Mohamed farouk Afifi, Abdel Hakeem Abdel Mohsen, Emad Abdel Naeem and Marwa Ibrahem Abdel razic

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:5

    Content type: Research

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  27. Spinal muscular atrophy (SMA) is the most common autosomal recessive disorder in humans after cystic fibrosis. It is classified into five clinical grades based on age of onset and severity of the disease. Alth...

    Authors: Heba Amin Hassan, Maha Saad Zaki, Mahmoud Yousry Issa, Nagham Maher El-Bagoury and Mona Lotfi Essawi

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:4

    Content type: Research

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  28. Chronic inflammation with sustained unregulated immune stimulation in autoimmune rheumatic diseases (ARD) may be a risk factor for developing lymphoproliferative disorders (LPD). Markers of ARD activity as hig...

    Authors: Manal Y. Tayel, Aida Nazir, Ibtessam M. Abdelhamid, Myriam A. S. Helmy, Nadia E. Zaki, Nehad S. Elsharkawy and Amira I. Fayad

    Citation: Egyptian Journal of Medical Human Genetics 2020 21:2

    Content type: Research

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  29. In the last two decades, studies have been widely carried out to assess the association between single-nucleotide polymorphisms (SNPs) of calcium-sensing receptor (CaSR) gene in exon 7 and the risk of urolithi...

    Authors: Besut Daryanto, Basuki Bambang Purnomo, Atma Gunawan, Fredo Tamara, Saga Aditya Hutama, Ema Dianita Mayasari, Arum Gladys Kusumaningrum and Jonny Karunia Fajar

    Citation: Egyptian Journal of Medical Human Genetics 2019 21:1

    Content type: Meta-Analysis

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  30. Omphalocele is one of the most common congenital defects in the anterior abdominal wall. The malformation is associated with various pathologies especially with chromosomal disorders. The developmental defect ...

    Authors: Henriette Poaty, Fanny Pelluard, Mama Sy Diallo, Irène Patricia Lucienne Ondima, Gwenaelle André and Jacques François Silou-Massamba

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:37

    Content type: Review

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  31. The fibrinogen receptor is an integrin on the platelet surface and is shaped from two types of glycoprotein (GP) subunits, GPIIb and GPIIIa. Membrane glycoprotein IIb/IIIa plays an important role in platelet f...

    Authors: Zahra Rezaei Dezaki, Raihaneh Bagheri and Batoul Pourgheysari

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:36

    Content type: Review

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  32. COX-2-specific inhibitors offer improved advantages over traditional NSAIDs. Plants are known to play critical roles in the discovery and developments of new pharmaceuticals. To the best of our knowledge, noth...

    Authors: O. Adeboye Akinloye, D. Samuel Metibemu, D. Ibukun Akinloye, S. Bamidele Onigbinde, I. Abigail Olaosebikan, Ogunnowo Florence, Bashorun Damilola, O. Adeola Bolarinwa and Olaromilorun Olubunmi

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:34

    Content type: Research

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  33. Receptor tyrosine kinases (RTKs) are signaling enzymes responsible for the transfer of Adenosine triphosphate (ATP) γ-phosphate to the tyrosine residues substrates. RTKs demonstrate essential roles in cellular...

    Authors: D. Samuel Metibemu, O. Adeboye Akinloye, A. Jamiu Akamo, D. Ajiboye Ojo, O. Tolulope Okeowo and I. Olaposi Omotuyi

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:35

    Content type: Review

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  34. Micro-RNA (miRNA) is one of the non-coding RNAs that exist in human genome. miRNAs play an important role in the expression of target genes. Several studies have indicated that organization of human genome is ...

    Authors: Fariba Boroumand, Iraj Saadat and Mostafa Saadat

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:33

    Content type: Research

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  35. Leptin is a versatile hormone with a variety of functions, including regulation of food intake by inhibiting hunger. Any deleterious mutation in this protein can lead to serious consequences for the body. This...

    Authors: Mohammed Baqur S. Al-Shuhaib

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:32

    Content type: Meta-Analysis

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  36. Myeloproliferative neoplasms (MPNs) describe a group of diseases involving the bone marrow (BM). Classical MPNs are classified into chronic myelogenous leukemia (CML), polycythemia vera (PV), essential thrombo...

    Authors: Sohaila Eldeweny, Hosny Ibrahim, Ghada Elsayed and Mohamed Samra

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:31

    Content type: Research

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  37. Alpha-fetoprotein (AFP) is currently used for serologic screening in hepatocellular carcinoma (HCC) but with low sensitivity ranging 41–65% with a high rate of false-negative and false-positive results. For th...

    Authors: Arig Aly Seif, Heba Hassan Aly, Doaa Mostafa Elzoghby, Ashraf Mohammed Elbreedy and Mohamed Lotfy

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:27

    Content type: Research

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  38. Telomere is a complex DNA–protein structure located at the end of all eukaryotic chromosomes. The major role of human telomerase is to catalyze the addition of telomeric repeat sequences TTAGGG onto chromosome...

    Authors: Amany H. Abdelrahman, Maha M. Eid, Mirhane Hassan, Ola M. Eid, Rania M. A. AbdelKader, Nevin M. AlAzhary, Rasha Y. Shahin and Mohamed T. Sallam

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:30

    Content type: Research

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  39. Inborn errors of metabolism are genetically inherited diseases which can lead to accumulation of toxic metabolites in the body. Inborn errors of metabolism have a high morbidity and mortality in neonates. Many...

    Authors: Shaimaa Mohamed Khalaf, Mohamed Mahrous El-Tellawy, Nafisa Hassan Refat and Amal Mohammed Abd El-Aal

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:29

    Content type: Research

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  40. Enterococci are intrinsically resistant to clinically achievable concentrations of aminoglycosides. However, high-level resistance to aminoglycosides (HLAR) is primarily due to the acquisition of genes encodin...

    Authors: Manal Diab, Dalia Salem, Ahmed El-Shenawy, Amira El-Far, Aya Abdelghany, Alaa Reda Awad, Inas El Defrawy and Mohamed Shemis

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:28

    Content type: Research

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  41. Plasmid-mediated quinolone resistance genes (PMQR) are mainly associated with clinical isolates of Enterobacteriaceae and complicate treatment of infections caused by these isolates worldwide. Extended-spectru...

    Authors: Samaa A. Taha, Hanan Hassan Omar and wafaa Hassan Hassan

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:26

    Content type: Research

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  42. Polycystic ovary syndrome (PCOS) is a multifactorial endocrine disorder characterized by anovulation, hyperandrogenism, and polycystic ovarian morphology. The pathophysiology of PCOS is not clear; however, dis...

    Authors: Sairish Ashraf, Mudasar Nabi, Shayaq ul Abeer Rasool, Fouzia Rashid and Shajrul Amin

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:25

    Content type: Review

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  43. Breast cancer (BC) represents the most prevalent malignancy among women, and it is characterized by high mortality especially in late stages. BC tumorigenesis was linked to epigenetic alterations namely methyl...

    Authors: Ragaa Abdelkader Ramadan, Ahmed Elkarmouty and Mostafa Elnaggar

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:24

    Content type: Research

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  44. Colorectal cancer (CRC) is the third most common cause of cancer-related deaths which contributes to a significant public health problem worldwide with 1.8 million new cases and almost 861,000 deaths in 2018 a...

    Authors: Neemat M. Kassem, Gamal Emera, Hebatallah A. Kassem, Nashwa Medhat, Basant Nagdy, Mustafa Tareq, Rabab Abdel Moneim, Mohammed Abdulla and Wafaa H. El Metenawy

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:20

    Content type: Research

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  45. Gene-gene and gene-environment interactions play an important role in cancer susceptibility. In this work, we studied the association of XRCC1 rs25487, ERCC1 rs735482, and CHRNA3 rs1051730 variants with lung canc...

    Authors: Nada Ezzeldin, Dalia El-Lebedy and Asmaa Mohammed

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:23

    Content type: Research

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  46. DNA methylation is associated with the risk factors of breast cancer. However, the impact of the reproductive and non-reproductive risk factors of breast cancer on p14/ARF methylation is not well known. Therefore...

    Authors: Ghada M. Ezzat and Mahmoud H. El-Shoeiby

    Citation: Egyptian Journal of Medical Human Genetics 2019 20:22

    Content type: Research

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