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 CREBBP (CREB-binding protein gene). The CREB-binding protein (CREBBP) and EP300 genes are two commonly expressed genes whose products possess acetyltransferase activity...

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Detalles Bibliográficos
Autores principales: Sima, Aurora, Smădeanu, Roxana Elena, Simionescu, Anca Angela, Nedelea, Florina, Vlad, Andreea-Maria, Becheanu, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139512/
https://www.ncbi.nlm.nih.gov/pubmed/35626936
http://dx.doi.org/10.3390/children9050759

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139512/
https://www.ncbi.nlm.nih.gov/pubmed/35626936
http://dx.doi.org/10.3390/children9050759

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