RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated
Por um escritor misterioso
Last updated 25 dezembro 2024
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Rubinstein–Taybi syndrome European Journal of Human Genetics
Rubinstein-Taybi syndrome: MedlinePlus Genetics
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Rubinstein–Taybi syndrome - Wikipedia
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
From Diagnosis to Management : Rubinstein – Taybi Syndrome
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated with deletions of the short arm of ch 16. Clinical Features: - Mental retardation - Broad thumbs
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Rubinstein-Taybi Syndrome: A case report
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