Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

Rubinstein–Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior...

Descripción completa

Detalles Bibliográficos
Autores principales: Yumul, Rhea Camille R., Chiong, Mary Anne D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9148230/
https://www.ncbi.nlm.nih.gov/pubmed/35637708
http://dx.doi.org/10.1155/2022/3388879

Ejemplares similares

Ejemplares similares