Article
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.
Gene - 1 Apr 2015
Graziano Claudio, Wischmeijer Anita, Pippucci Tommaso, Fusco Carlo, Diquigiovanni Chiara, Nõukas Margit, Sauk Martin, Kurg Ants, Rivieri Francesca, Blau Nenad, Hoffmann Georg F, Chaubey Alka, Schwartz Charles E, Romeo Giovanni, Bonora Elena, Garavelli Livia, Seri Marco
Abstract excerpt
The causative variant in a consanguineous family in which the three patients (two siblings and a cousin) presented with intellectual disability, Marfanoid habitus, craniofacial dysmorphisms, chronic diarrhea and progressive kyphoscoliosis, has been identified through whole exome sequencing (WES) analysis. WES study identified a homozygous DDC variant in the patients, c.1123C>T, resulting in p.Arg375Cys missense...
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