4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
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Descrição
Microcephaly: Causes, Complications, and Diagnosis
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Coloboma Associated With Rubinstein-Taybi Syndrome
An approach to a chil with microcephaly
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Very Small Stature, Not Skeletal Dysplasia
Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal Medicine
Frontiers A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
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