Casa
rubinstein taybi omim

Rubinstein-Taybi Syndrome: A Rare Case Report

Por um escritor misterioso

Descrição
A case of RTS with multiple keloids along with classical features of the disorder in a 30‐year male is reported. © 2019 Indian Dermatology Online Journal | Published by Wolters Kluwer Medknow Sir, The Rubinstein‐Taybi syndrome (RTS) is a rare neurodevelopmental disorder characterised by mental retardation, microcephaly, specific facial characteristics, broad thumbs and big toes.[1] Diagnosis is often difficult due to its rarity and non‐familiarity with the classical features of this syndrome. Cutaneous findings such as capillary malformations, hirsutism, keloid formation, and pilomatricomas have been described previously in association with RTS.[2] We report a case of RTS with multiple keloids along with classical features of the disorder in a 30‐year male.
Rubinstein-Taybi Syndrome: A Rare Case Report
Rubinstein-Taybi syndrome, Radiology Reference Article
Rubinstein-Taybi Syndrome: A Rare Case Report
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
Rubinstein-Taybi Syndrome: A Rare Case Report
Rubinstein-Taybi Syndrome – New Indian Journal of Pediatrics
Rubinstein-Taybi Syndrome: A Rare Case Report
Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - Wiley Online Library
Rubinstein-Taybi Syndrome: A Rare Case Report
Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals
Rubinstein-Taybi Syndrome: A Rare Case Report
PDF) Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature
Rubinstein-Taybi Syndrome: A Rare Case Report
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
Rubinstein-Taybi Syndrome: A Rare Case Report
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Rubinstein-Taybi Syndrome: A Rare Case Report
Tardive Dystonia with Olanzapine: A Rare Case Report - Gurvinder Pal Singh, Rajinder Kumar, Poonam Bharti, 2012
Rubinstein-Taybi Syndrome: A Rare Case Report
Severe persistent pulmonary hypertension in a neonate with Rubinstein–Taybi syndrome accompanied by triple X syndrome - Pediatrics & Neonatology
Rubinstein-Taybi Syndrome: A Rare Case Report
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
de por adulto (o preço varia de acordo com o tamanho do grupo)