Rubinstein-Taybi Syndrome 1
Por um escritor misterioso
Descrição
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
BJORL - Brazilian Journal of Otorhinolaryngology
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Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
Broad thumbs and broad hallux: the hallmarks for the Rubinstein-Taybi syndrome - Arquivos de Neuro-Psiquiatria
What is RTS – RTS – Warrior
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Long-term results following osteotomy of the thumb delta phalanx in Rubinstein–Taybi Syndrome - A. Jain, S. Rehman, G. Smith, 2010
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