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.
PDF) HEPATOBLASTOMA WITH RUBINSTEIN-TAYBI SYNDROME: A RARE ASSOCIATION
Severe persistent pulmonary hypertension in a neonate with Rubinstein–Taybi syndrome accompanied by triple X syndrome - Pediatrics & Neonatology
Rubinstein–Taybi Syndrome with Psychosis - Raghavendra B. Nayak, Ambika Lakshmappa, Nanasaheb M. Patil, Sameeran S. Chate, Lohit Somashekar, 2012
Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Rubinstein-Taybi Syndrome
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
PDF) Rubinstein-Taybi Syndrome: A Case Report
Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
PDF) A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutation
de
por adulto (o preço varia de acordo com o tamanho do grupo)