A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome

Mowat-Wilson syndrome is a rare genetic condition characterized by intellectual disability, structural anomalies, and dysmorphic features. It is caused by haploinsufficiency of the ZEB2 gene in chromosome 2q22.3. Over 180 distinct mutations in ZEB2 have been reported, including nonsense and missense...

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Bibliografiske detaljer
Udgivet i:Mol Syndromol
Main Authors: Baxter, Adrianne L., Vivian, Jay L., Hagelstrom, R. Tanner, Hossain, Waheeda, Golden, Wendy L., Wassman, E. Robert, Vanzo, Rena J., Butler, Merlin G.
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2017
Fag:
Novel Insights from Clinical Practice
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5498959/
https://ncbi.nlm.nih.gov/pubmed/28690488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000473693
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