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Short QT syndrome: Genotype-phenotype correlations

✍ Scribed by Martin Borggrefe; Christian Wolpert; Charles Antzelevitch; Christian Veltmann; Carla Giustetto; Fiorenzo Gaita; Rainer Schimpf

Book ID: 113700831
Publisher: Elsevier Science
Year: 2005
Tongue: English
Weight: 524 KB
Volume: 38
Category: Article
ISSN: 1532-8430
DOI: 10.1016/j.jelectrocard.2005.06.009

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## Abstract Rubinstein–Taybi syndrome (RTS) is a rare multiple congenital anomaly/intellectual impairment syndrome. Loss of function in __CREBBP__ or __EP300__ genes has been found in about 50% of patients with RTS. Genotype–phenotype correlations were investigated in 93 patients meeting diagnostic