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Fig. 2 | Egyptian Journal of Medical Human Genetics

Fig. 2

From: Prenatal presentation of Walker–Warburg syndrome with a POMT2 mutation: an extended fetal phenotype

Fig. 2

POMT2 mutations and the pedigree in the fetus with Walker–Warburg syndrome. a Pedigree of the family showing the previous 2 affected siblings with arrow indicative of our index case. b Portion of the sequencing chromatogram showing the POMT2 pathogenic variant identified in our fetus; the POMT2 variant c.924-2A>C is predicted to disrupt the highly conserved acceptor splice site

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