Article
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
American journal of medical genetics. Part A - 1 Jul 2021
Hildebrandt Clara C, Patel Nisha, Graham John M, Bamshad Michael, Nickerson Deborah A, White Janson J, Marvin Colby T, Miller Danny E, Grand Katheryn L, Sanchez-Lara Pedro A, Schweitzer Daniela, Al-Zaidan Hamad I, Al Masseri Zainab, Alkuraya Fowzan S, Lin Angela E
Abstract excerpt
Van den Ende-Gupta syndrome (VDEGS) is a rare autosomal recessive condition characterized by distinctive facial and skeletal features, and in most affected persons, by biallelic pathogenic variants in SCARF2. We review the type and frequency of the clinical features in 36 reported individuals with features of VDEGS, 15 (42%) of whom had known pathogenic variants in SCARF2, 6 (16%) with negative SCARF2 testing,...
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