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

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

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

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

Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS

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

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

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

SciELO - Brasil - Dental anomalies in syndromes displaying hypertrichosis in the clinical spectrum Dental anomalies in syndromes displaying hypertrichosis in the clinical spectrum

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

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

Recombinant Human CREB-binding protein(CREBBP),partial - Cusabio

Glen MONROE, Postdoc, PhD, University Medical Center Utrecht, Utrecht, UMC Utrecht, Department of Medical Genetics

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood