Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

PDF) Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome

Frontiers Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction

Frontiers Case Report: A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1

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

Frontiers Syndromic forms of congenital hyperinsulinism

buccal mucosa - List of Frontiers' open access articles

The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library

Frontiers Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease

PDF) Cornelia de Lange Syndrome as Paradigm of Chromatinopathies

Frontiers Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease