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 07 junho 2024

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - 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

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting - Schildt - American Journal of Medical Genetics Part A - Wiley Online Library

The missing link between genetic association and regulatory function

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

Novel heterozygous variants in the EP300 gene cause Rubinstein–Taybi syndrome 2: Reports from two Chinese children - Du - 2023 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Wiley Special Collection on African Genomics: American Journal of Medical Genetics Part A

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

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

PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature

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

Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing - ScienceDirect

Wiley Special Collection on African Genomics: American Journal of Medical Genetics Part A

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition - Musante - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library

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