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

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

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

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

Exome Sequencing: Most Up-to-Date Encyclopedia, News & Reviews

Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

germline mosaicism - 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

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

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

Exome Sequencing: Most Up-to-Date Encyclopedia, News & Reviews

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

Genes, Free Full-Text