RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated
Por um escritor misterioso
Last updated 16 junho 2024
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
Rubinstein-Taybi Syndrome 1
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
DBMCI MDS : Formerly MDS Experts - RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated with deletions of the short arm of ch 16. Clinical Features: - Mental retardation - Broad thumbs
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Rubinstein–Taybi syndrome European Journal of Human Genetics
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Rubinstein-Taybi syndrome: Treatments and life expectancy
Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
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