Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library

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Rubinstein–Taybi syndrome in diverse populations - Tekendo

Further delineation of an entity caused by CREBBP and EP300