Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment
Por um escritor misterioso
Descrição
Rubinstein-Taybi syndrome is an intellectual disability which causes short stature, distinctive facial features, and varying cognitive deficits.
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
PDF) Rubinstein-Taybi syndrome medical guidelines
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications
Psychiatric Profile in Rubinstein-Taybi Syndrome
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Genes, Free Full-Text
From Diagnosis to Management : Rubinstein – Taybi Syndrome
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Genes, Free Full-Text
Rubinstein-Taybi Syndrome: A case report
Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus
