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 20 setembro 2024
Biomolecules, Free Full-Text
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
American J of Med Genetics PT A - 2016 - Lubinsky - Syndromes With Supernumerary Teeth, PDF, Causes Of Death
IJMS, Free Full-Text
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - Wiley Online Library
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
The missing link between genetic association and regulatory function
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
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