Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report

Menke-Hennekam syndrome (MKHK) is a recently described rare autosomal dominant disorder caused by loss-of-function variants in exon 30 or 31 of CREBBP (CREB-binding protein) or EP300 genes. These genes encode transcriptional coactivators with a key role in chromatin remodeling and regulation of gene...

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Bibliographic Details
Main Authors: Anna Μaria Anastasiou, Constantia Aristidou, Athina Theodosiou, Ludmila Kousoulidou, Ioannis Papaevripidou, Angelos Alexandrou, Paola Evangelidou, Carolina Sismani, George A. Tanteles, Despina Sanoudou, Aristides G. Eliopoulos
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Genetics
Subjects:
Menke-Hennekam syndrome
CREBBP
genetics
case report
variant
Rubinstein-Taybi syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1585453/full
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