Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical
Por um escritor misterioso
Last updated 28 março 2025

In 1963, Rubinstein and Taybi first described Rubinstein-Taybi syndrome (RSTS) (Mendelian Inheritance in Man [MIM] #180849). Rubinstein-Taybi syndrome is a well-delineated malformation syndrome characterized by facial abnormalities, broad thumbs, broad great toes, short stature, and mental retardation.

Rubinstein-Taybi Syndrome – New Indian Journal of Pediatrics

PDF) Rubinstein-Taybi syndrome medical guidelines

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Rubinstein–Taybi syndrome European Journal of Human Genetics

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

Dysmorphic and skeletal features of Rubinstein‐Taybi syndrome patients.

JCDR - Rubinstein Taybi Syndrome, Oro-facio-dental findings

Rubinstein–Taybi syndrome European Journal of Human Genetics

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 with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Rubinstein-Taybi syndrome: MedlinePlus Genetics
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