Rubinstein-Taybi Syndrome 1
Por um escritor misterioso
Last updated 11 novembro 2024
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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