Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene

Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominantly inherited disease characterized by slow mental and physical growth, skeletal abnormalities (broad thumbs and big toes), and dysmorphic facial features. RSTS is associated with de novo variants of the epigenetic-associated gene CREBBP. R...

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Autori principali:	Yang Yang, Jing Xiao, Yuanyuan Ye, Jianwen Xiang, Zhu Wang, Jia Chen
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2023-03-01
Serie:	Frontiers in Pediatrics
Soggetti:	rubinstein-taybi syndrome cutis marmorata telangiectatica congenita CREBBP case report preterm
Accesso online:	https://www.frontiersin.org/articles/10.3389/fped.2023.1059658/full
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