Born with Rubinstein-Taybi Syndrome (RTS), Braxton and Family are
Por um escritor misterioso
Last updated 12 abril 2025

After an uneventful pregnancy, I arrived at the hospital ready to meet my son and introduce him […]

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay - ScienceDirect

Genes, Free Full-Text
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Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

PDF) Rubinstein-Taybi Syndrome: A Case Report

Monash Health Research Report 2012

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

To the People Who Think I'm 'Jumping on the Bandwagon' on Rare Disease Day
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