Rubinstein-Taybi Syndrome 1
Por um escritor misterioso
Last updated 24 abril 2025

Forgotten Diseases Research Foundation

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Dandy walker variant an association with Rubinstein Taybi syndrome

Rubinstein-Taybi Syndrome: A case report

a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening

Long-term results following osteotomy of the thumb delta phalanx in Rubinstein–Taybi Syndrome - A. Jain, S. Rehman, G. Smith, 2010

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics

What is RTS – RTS – Warrior

Rubinstein-Taybi syndrome: MedlinePlus Genetics
Two Pathogenic Variants in Two Ultra Rare Syndromes; Smith- Kingsmore Syndrome and Rubinstein Taybi Syndrome Type2
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