Rubinstein-Taybi Syndrome 1

Por um escritor misterioso

Last updated 04 fevereiro 2025

Clinical photos of the patients. (a) Case 1: Dysmorphic facial features

Broad thumbs and broad hallux: the hallmarks for the Rubinstein-Taybi syndrome - Arquivos de Neuro-Psiquiatria

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

Two Pathogenic Variants in Two Ultra Rare Syndromes; Smith- Kingsmore Syndrome and Rubinstein Taybi Syndrome Type2

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome

What Is Rubinstein-Taybi Syndrome? - StoryMD

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

Rubinstein-Taybi syndrome-showing distinctive clinical features like

Rubinstein–Taybi syndrome - Wikipedia

Recomendado para você