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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Frontiers Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1
rubinstein-taybi syndrome - List of Frontiers' open access articles
PDF) Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction
Linhuan Huang's research works Sun Yat-Sen University, Guangzhou (SYSU) and other places
germline mosaicism - List of Frontiers' open access articles
buccal mucosa - List of Frontiers' open access articles
germline mosaicism - List of Frontiers' open access articles
Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
Frontiers Syndromic forms of congenital hyperinsulinism
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