Facial features of Rubinstein-Taybi syndrome
Por um escritor misterioso
Last updated 14 abril 2025


RubinsteinTaybi syndrome - Public_munhcenter

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

History and Prevalence

Patent Ductus Arteriousus Device Closure in an Infant with Rubinstein–Taybi Syndrome, Iranian Journal of Pediatrics

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
Rubinstein Taybi Syndrome - MEDizzy
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Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment

a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

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

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

Rubinstein-Taybi Syndrome: A Pediatric Case Report
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