Rubinstein-Taybi Syndrome
Por um escritor misterioso
Last updated 20 janeiro 2025
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Severe persistent pulmonary hypertension in a neonate with Rubinstein–Taybi syndrome accompanied by triple X syndrome - Pediatrics & Neonatology
Psychiatric Profile in Rubinstein-Taybi Syndrome
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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