Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
Por um escritor misterioso
Last updated 11 abril 2025


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: A Model of Epigenetic Disorder

Genes, Free Full-Text

Perspectives on the future of dysmorphology - Solomon - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library

PDF) Rubinstein-Taybi syndrome in diverse populations

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

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

Journal of Cellular Physiology, Cell Biology Journal

Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development

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
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