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

• Autori principali: Aurora Sima (Autore), Roxana Elena Smădeanu (Autore), Anca Angela Simionescu (Autore), Florina Nedelea (Autore), Andreea-Maria Vlad (Autore), Cristina Becheanu (Autore)
• Natura: Libro
• Pubblicazione: MDPI AG, 2022-05-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...