Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
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Last updated 25 abril 2025


Journal of Cellular Physiology, Cell Biology Journal

Molecular‐based phenotype variations in amelogenesis imperfecta - Dong - 2023 - Oral Diseases - Wiley Online Library

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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Wiley Special Collection on African Genomics: American Journal of Medical Genetics Part A

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
American J of Med Genetics PT A - 2016 - Lubinsky - Syndromes With Supernumerary Teeth, PDF, Causes Of Death

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

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes

Genes, Free Full-Text

Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract - Connaughton - 2022 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library

Genes, Free Full-Text

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
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