Fig. 1From: Novel PPP1R21 mutation in a family with autosomal recessive neurodevelopmental disorder: results of genomics and molecular analysisPedigree of the family. The c.1317_1318delAG; p.(Asp440Tyrfs*6) mutation in the PPP1R21 gene was observed homozygous in the patient. This mutation was heterozygous in the parentsBack to article page