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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Библиографические подробности
Опубликовано в: :Mol Syndromol
Главные авторы: Baxter, Adrianne L., Vivian, Jay L., Hagelstrom, R. Tanner, Hossain, Waheeda, Golden, Wendy L., Wassman, E. Robert, Vanzo, Rena J., Butler, Merlin G.
Формат: Artigo
Язык:Inglês
Опубликовано: S. Karger AG 2017
Предметы:
Novel Insights from Clinical Practice
Online-ссылка: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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