Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Por um escritor misterioso
Last updated 25 outubro 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.
Rubinstein-Taybi Syndrome 1
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
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
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
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
Naevus simplex
DermNet
Forgotten Diseases Research Foundation
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
JCM, Free Full-Text
Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
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