Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric
Por um escritor misterioso
Last updated 24 janeiro 2025
Dandy walker variant an association with Rubinstein Taybi syndrome
Rubinstein-Taybi Syndrome: A case report
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia, BMC Medical Genetics
Rubinstein–Taybi syndrome: A pediatric case report
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
What Is Rubinstein-Taybi Syndrome? - StoryMD
apem :: Annals of Pediatric Endocrinology & Metabolism
Rubinstein-Taybi Syndrome (RTS) Event at the Newport Aquarium – OhioF2F
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
Qamar (@Qamar_Razali) / X
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Born with Rubinstein-Taybi Syndrome (RTS), Braxton and Family are Full of Hope - Global Genes
Rubinstein-Taybi Syndrome: February 2013
Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
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