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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Linhuan Huang's research works Sun Yat-Sen University, Guangzhou (SYSU) and other places
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
Linhuan Huang's research works Sun Yat-Sen University, Guangzhou (SYSU) and other places
rubinstein-taybi syndrome - List of Frontiers' open access articles
Linhuan Huang's research works Sun Yat-Sen University, Guangzhou (SYSU) and other places
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
rubinstein-taybi syndrome - List of Frontiers' open access articles
Frontiers Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction
buccal mucosa - List of Frontiers' open access articles
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
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