New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.

Conclusions: EDNRB should be considered as another prevalent pathogenic gene in WS type 1. Our study expanded the genotype and phenotype spectrum of WS, and diagnostic next-generation sequencing is promising for WS. PMID: 30936914 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/30936914?dopt=Abstract

Source: Neural Plasticity - April 4, 2019 Category: Neurology Authors: Li W, Mei L, Chen H, Cai X, Liu Y, Men M, Liu XZ, Yan D, Ling J, Feng Y Tags: Neural Plast Source Type: research