Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
Por um escritor misterioso
Last updated 13 março 2025


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

Genetic Disorder: Most Up-to-Date Encyclopedia, News & Reviews

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

The research projects of the winners - Foundation For Rare Diseases

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. - Abstract - Europe PMC

PDF) Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

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

Etiology and pathogenesis of the cohesinopathies. - Abstract - Europe PMC
Inhibition of Histone Deacetylases 1, 2, and 3 Enhances Clearance of Cholesterol Accumulation in Niemann-Pick C1 Fibroblasts

2002 Strasbourg - European Society of Human Genetics

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. - Abstract - Europe PMC

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease. - Abstract - Europe PMC

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
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