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

Clinical, genetic and imaging findings identify new causes for

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Chromosome 16p13.3 Deletion Syndrome, Proximal disease: Malacards

Characterization of 14 novel deletions underlying Rubinstein–Taybi

Rubinstein–Taybi syndrome associated with Chiari type I

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Clinical, genetic and imaging findings identify new causes for

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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian