What Is Rubinstein-Taybi Syndrome? - StoryMD
Por um escritor misterioso
Last updated 08 novembro 2024
Rubinstein-Taybi syndrome (RTS) is a syndrome characterized by broad thumbs and toes, short stature, distinctive facial features, and varying degrees of intellectual disability. The syndrome may be
Craniofacial-Deafness-Hand Syndrome - StoryMD
First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library
DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated with deletions of the short arm of ch 16. Clinical Features: - Mental retardation - Broad thumbs
Pfeiffer Syndrome - StoryMD
Cleidocranial Dysplasia - StoryMD
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Polydactyly - Clinical - StoryMD
What is Rubinstein-Taybi Syndrome? - Goally Apps & Tablets for Kids
What Is Rubinstein-Taybi Syndrome? - StoryMD
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