Article
Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses.
American journal of medical genetics. Part A - 1 Mar 2022
Herman Isabella, Jolly Angad, Du Haowei, Dawood Moez, Abdel-Salam Ghada M H, Marafi Dana, Mitani Tadahiro, Calame Daniel G, Coban-Akdemir Zeynep, Fatih Jawid M, Hegazy Ibrahim, Jhangiani Shalini N, Gibbs Richard A, Pehlivan Davut, Posey Jennifer E, Lupski James R
Abstract excerpt
Genomic sequencing and clinical genomics have demonstrated that substantial subsets of atypical and/or severe disease presentations result from multilocus pathogenic variation (MPV) causing blended phenotypes. In an infant with a severe neurodevelopmental disorder, four distinct molecular diagnoses were found by exome sequencing (ES). The blended phenotype that includes brain malformation, dysmorphism, and...
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