Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
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Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
Frontiers Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
buccal mucosa - List of Frontiers' open access articles
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
IJMS, Free Full-Text
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
PDF) Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature
Linhuan Huang's research works Sun Yat-Sen University, Guangzhou (SYSU) and other places
germline mosaicism - List of Frontiers' open access articles
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