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...

Descripción completa

Detalles Bibliográficos
Autores principales: Yang, Yang, Xiao, Jing, Ye, Yuanyuan, Xiang, Jianwen, Wang, Zhu, Chen, Jia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10022664/
https://www.ncbi.nlm.nih.gov/pubmed/36937962
http://dx.doi.org/10.3389/fped.2023.1059658

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10022664/
https://www.ncbi.nlm.nih.gov/pubmed/36937962
http://dx.doi.org/10.3389/fped.2023.1059658

Ejemplares similares