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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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Syndromol
Auteurs principaux: Refaat, Khaled, Helmy, Nivine, Elawady, Mohamed, El Ruby, Mona, Kamel, Alaa, Mekkawy, Mona, Ashaat, Engy, Eid, Ola, Mohamed, Amal, Rady, Mervat
Format: Artigo
Langue:Inglês
Publié: S. Karger AG 2021
Sujets:
Original Article
Accès en ligne: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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