Facial features of Rubinstein-Taybi syndrome

Por um escritor misterioso
Last updated 23 março 2025
Facial features of Rubinstein-Taybi syndrome
Facial features of Rubinstein-Taybi syndrome
RubinsteinTaybi syndrome - Public_munhcenter
Facial features of Rubinstein-Taybi syndrome
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Facial features of Rubinstein-Taybi syndrome
History and Prevalence
Facial features of Rubinstein-Taybi syndrome
Patent Ductus Arteriousus Device Closure in an Infant with Rubinstein–Taybi Syndrome, Iranian Journal of Pediatrics
Facial features of Rubinstein-Taybi syndrome
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Facial features of Rubinstein-Taybi syndrome
Rubinstein Taybi Syndrome - MEDizzy
Facial features of Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment
Facial features of Rubinstein-Taybi syndrome
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
Facial features of Rubinstein-Taybi syndrome
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Facial features of Rubinstein-Taybi syndrome
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
Facial features of Rubinstein-Taybi syndrome
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Facial features of Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome: A Pediatric Case Report

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