Rubinstein Taybi syndrome caused by EP300 gene mutation: what we learned from two cases and literature review

Rubinstein Taybi syndrome caused by EP300 gene mutation: what we learned from two cases and literature review

IntroductionRubinstein-Taybi syndrome is an extremely rare autosomal dominant genetic disease. The incidence of RSTS ranges from 1/100 000 to 125 000.MethodsWe retrospectively reviewed the phenotype and genotype of two children who were diagnosed with RSTS in Hunan Province Children’s Hospital from...

Full description

Saved in:
Bibliographic Details
Main Authors: Yefeng Wang, Xinghan Wu, Sha Zhao, Ningan Xu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Genetics
Subjects:
Rubinstein-Taybi syndrome
EP300 gene
NSD1 gene
growth retardation
children
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1588657/full
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items