Menke–Hennekam Syndrome: A Literature Review and a New Case Report

Menke–Hennekam Syndrome: A Literature Review and a New Case Report

Background: Menke–Hennekam syndrome (MHS) is a rare and recently described syndrome consecutive to the variants in exon 30 or 31 in <i>CREBBP</i> (CREB-binding protein gene). The CREB-binding protein (<i>CREBBP)</i> and <i>EP300</i> genes are two commonly expresse...

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Bibliographic Details
Main Authors: Aurora Sima, Roxana Elena Smădeanu, Anca Angela Simionescu, Florina Nedelea, Andreea-Maria Vlad, Cristina Becheanu
Format: Article
Language:English
Published: MDPI AG 2022-05-01
Series:Children
Subjects:
Menke–Hennekam syndrome
whole exome sequence
exons 30 and 31
<i>CREBBP</i>
failure to thrive
developmental delay
Online Access:https://www.mdpi.com/2227-9067/9/5/759

Internet

https://www.mdpi.com/2227-9067/9/5/759

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