Timothy sendromu

Kalıtsal - AD

17 fenotip

Yuvarlak yüz

Basık-düz burun

Basık-düz maksilla

Üst dudak ince

Mikrodonti

Ana bulgu: Kalpte ileti bozuklukları bulguları

Psödosindaktili

Psikomotor yavaşlama

Otizm

Yineleyen infeksiyon hastalıkları

 

• Splawski I, Timothy KW, Sharpe LM, et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell, 119: 19-31, 2004

• Splawski I, Timothy KW, Decher N, et al. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proceedings of the National Academy of Sciences, 102: 8089-8096, 2005

• Hiippala A, Tallila J, Myllykangas S, et al. Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development. American Journal of Medical Genetics, 167A: 629-634, 2015

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