Article
Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.
American journal of medical genetics. Part A - 1 Nov 2016
Nishi Eriko, Masuda Koji, Arakawa Michiko, Kawame Hiroshi, Kosho Tomoki, Kitahara Masashi, Kubota Noriko, Hidaka Eiko, Katoh Yuki, Shirahige Katsuhiko, Izumi Kosuke
Abstract excerpt
In a clinical setting, the number of organ systems involved is crucial for the differential diagnosis of congenital genetic disorders. When more than one organ system is involved, a syndromic diagnosis is suspected. In this report, we describe three patients with apparently syndromic features. Exome sequencing identified non-syndromic gene mutations as a potential cause of part of their phenotype. The first...
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