Article
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.
American journal of medical genetics. Part A - 1 Jun 2017
Huijmans Jan G M, Schot Rachel, de Klerk Johannis B C, Williams Monique, de Coo René F M, Duran Marinus, Verheijen Frans W, van Slegtenhorst Marjon, Mancini Grazia M S
Abstract excerpt
We describe the clinical presentation and 17 years follow up of a boy, born to consanguineous parents and presenting with intellectual disability (ID), autism, "marfanoid" dysmorphic features, and moderate abnormalities of sulfite metabolism compatible with molybdenum cofactor deficiency, but normal sulfite oxidase activity in cultured skin fibroblasts. Genomic exome analysis revealed a homozygous MOCS3 missense...
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