Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
Por um escritor misterioso
Last updated 10 abril 2025


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

Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. - Abstract - Europe PMC

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

Congenital basis of posterior fossa anomalies. - Abstract - Europe PMC

PDF) Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

File:Rubinstein-Taybi Syndrome1.jpg - Wikipedia

Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes. - Abstract - Europe PMC
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