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

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

PDF) Rubinstein-Taybi syndrome in diverse populations

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

Clinical study and genetic analysis of Cornelia de Lange syndrome caused by a novel MAU2 gene variant in a Chinese boy - Peng - Molecular Genetics & Genomic Medicine - Wiley Online Library

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

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

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

PDF) Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome

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

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

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 in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

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