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.
Genes, Free Full-Text
PDF) Rubinstein-Taybi syndrome medical guidelines
Special Needs Spotlight
Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
Rubinstein–Taybi syndrome European Journal of Human Genetics
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
Cureus, Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Rubinstein-Taybi Syndrome: A case report
Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome
de
por adulto (o preço varia de acordo com o tamanho do grupo)