Rubinstein-Taybi Syndrome
Por um escritor misterioso
Descrição
Autism Spectrum Disorder
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Rubinstein- Taybi Syndrome, Congenital Hand and Arm Differences
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes in Diverse Populations
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
Rubinstein-Taybi syndrome: Multisystem involvement and its clinical
Rubinstein-Taybi Syndrome Support Group
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Rubinstein–Taybi syndrome - Wikipedia
Rubinstein - Taybi Syndrome (Rubinstein syndrome, broad thumb-hallux syndrome, broad thumbs and great toes, characteristic facies and mental retardation) - Dermatology Advisor
Rubinstein taybi syndrome
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
