Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

Lysine Acetylation and Deacetylation in Brain Development and Neuropathies - ScienceDirect

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics

IJMS, Free Full-Text

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

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

Tamar de Vries - AIOS Interne Geneeskunde - Ziekenhuis Gelderse Vallei

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) Multiple Dental and Skeletal Abnormalities in an Individual with Filippi Syndrome

Genes, Free Full-Text

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library