Rubinstein-Taybi Syndrome

Por um escritor misterioso

Last updated 21 fevereiro 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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