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

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

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

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

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PDF) 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

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

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

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. - Abstract - Europe PMC

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

PDF) Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly

Hands showing syndactyly of fingers.