Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Por um escritor misterioso
Last updated 02 maio 2024
Rubinstein-Taybi syndrome (RTS), or broad thumb-hallux syndrome, is a rare genetic condition with a broad phenotypic spectrum that ranges from mild to severe abnormal morphology.
Images showing classical RSTS features of patient including thickened
DermNet (@dermnet) • Instagram photos and videos
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Forgotten Diseases Research Foundation
Hypertrophic Scars and Keloids: A Complete Overview — DermNet
Current ConCepts in Dermatology
Rubinstein taybi syndrome
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
DermNet
Dentocyclopedia - rubinstein taybi syndrome
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