Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome

Mowat-Wilson syndrome (MWS) is a rare autosomal dominant syndrome characterized by dysmorphic features, mental retardation, and congenital heart disease (CHD). MWS results from microdeletions of chromosome 2q23 or de novo SNVs involving the ZEB2 gene. Here, we report on an Egyptian MWS patient diagn...

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發表在:Mol Syndromol
Main Authors: Refaat, Khaled, Helmy, Nivine, Elawady, Mohamed, El Ruby, Mona, Kamel, Alaa, Mekkawy, Mona, Ashaat, Engy, Eid, Ola, Mohamed, Amal, Rady, Mervat
格式: Artigo
語言:Inglês
出版: S. Karger AG 2021
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Original Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8114072/
https://ncbi.nlm.nih.gov/pubmed/34012377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000513313
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