Rubinstein–Taybi syndrome in diverse populations - Tekendo
Por um escritor misterioso
Last updated 22 março 2025


Hand X-ray showed broad and short terminal phalanges and triangular

Wiley Special Collection on African Genomics: American Journal of Medical Genetics Part A

Hands and feet in RTS. Broad thumbs, broad terminal phalanges were seen.

Psychiatric Profile in Rubinstein-Taybi Syndrome

a Patient 16 (negative for CREBBP mutations); b patient 17

Facial characteristics include slanting palpebral fissures and beaked

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

PDF) Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: A case report

Genes, Free Full-Text

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. - Abstract - Europe PMC

Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome - Choi - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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