Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
Por um escritor misterioso
Last updated 02 junho 2024
buccal mucosa - List of Frontiers' open access articles
PDF) Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome
buccal mucosa - List of Frontiers' open access articles
Linhuan Huang's research works Sun Yat-Sen University, Guangzhou (SYSU) and other places
Frontiers Syndromic forms of congenital hyperinsulinism
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
Neurodevelopmental Disorder: Most Up-to-Date Encyclopedia, News & Reviews
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
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