Article

Clinical characteristics and novel ZEB2 gene mutation analysis of three Chinese patients with Mowat-Wilson syndrome

2023-02-09

Abstract excerpt

<h4>Purpose: </h4> Mowat-Wilson syndrome (MWS) is an autosomal dominant disease caused by a pathogenic variant of the ZEB2 gene. The main clinical manifestations include special facial features, Hirschsprung disease (HSCR), global developmental delay and other congenital malformations. Here, we summarize the clinical characteristics and genetic mutation analysis of three Chinese patients with MWS. Patients and Me...

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Literature Corpus work: abaf2584-5a3f-5da2-96a4-b78738a8000e
DOI: 10.21203/rs.3.rs-2556457/v1

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Clinical characteristics and novel ZEB2 gene mutation analysis of three Chinese patients with Mowat-Wilson syndromeDOI 10.21203/rs.3.rs-2556457/v1Read

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