Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian

Research articles European Journal of Human Genetics

Clinical exome sequencing identifies novel CREBBP variants in 18

Genes, Free Full-Text

Microdeletions and mutations of CREBBP (CBP) gene can cause

Further delineation of an entity caused by CREBBP and EP300

Genes, Free Full-Text

Articles in 2016 European Journal of Human Genetics

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel

Analysis of mutations within the intron20 splice donor site of
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