Born with Rubinstein-Taybi Syndrome (RTS), Braxton and Family are

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

Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder - Millan - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library

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Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

Rubinstein-Taybi Syndrome: Behavior

PDF) Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

What is Rubinstein-Taybi Syndrome? - Goally Apps & Tablets for Kids

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Journey Full of Life

Two brothers, two different diagnoses -- Rubinstein Taybi syndrome and cerebral palsy. One loving familycome meet parents, Sam and…

Forgotten Diseases Research Foundation

Severe persistent pulmonary hypertension in a neonate with Rubinstein–Taybi syndrome accompanied by triple X syndrome - Pediatrics & Neonatology

Journey Full of Life

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

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library