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 27 novembro 2024
Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing - ScienceDirect
Genes, Free Full-Text
PDF) Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
Wiley Special Collection on African Genomics: American Journal of Medical Genetics Part A
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
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Wiley Special Collection on African Genomics: American Journal of Medical Genetics Part A
The missing link between genetic association and regulatory function
The social phenotype associated with Wiedemann‐Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality - Ng - 2023 - American Journal of Medical Genetics Part A - Wiley Online Library
Biomolecules, Free Full-Text
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
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