Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Por um escritor misterioso
Last updated 19 outubro 2024
Details of all reported patients with pilomatricomas and Rubinstein-Taybi syndrome.
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome
Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Full article: Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability
Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children - Du - 2023 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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