Costello Syndrome is a rare multiple congenital anomaly disorder caused by de novo heterozygous mutations in the v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS) gene. Recent studies seem to support apparent autosomal dominant inheritance and somatic mosaicism and an association with advanced parental age. Abnormal hand posture has been reported as a typical feature of Costello Syndrome but the pathophysiology of this is unclear.

Dileone, M., Zampino, G., Profice, P., Pilato, F., Leoni, C., Ranieri, F., Capone, F., Tartaglia, M., Brown, P., Di Lazzaro, V., Dystonia in Costello syndrome, <<PARKINSONISM & RELATED DISORDERS>>, 2012; 18 (6): 798-800. [doi:10.1016/j.parkreldis.2012.03.015] [http://hdl.handle.net/10807/31509]

Dystonia in Costello syndrome

Zampino, Giuseppe;Profice, Paolo;Pilato, Fabio;Leoni, Chiara;Ranieri, Federico;Capone, Fioravante;Tartaglia, Marco;Di Lazzaro, Vincenzo
2012

Abstract

Costello Syndrome is a rare multiple congenital anomaly disorder caused by de novo heterozygous mutations in the v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS) gene. Recent studies seem to support apparent autosomal dominant inheritance and somatic mosaicism and an association with advanced parental age. Abnormal hand posture has been reported as a typical feature of Costello Syndrome but the pathophysiology of this is unclear.
Inglese
Dileone, M., Zampino, G., Profice, P., Pilato, F., Leoni, C., Ranieri, F., Capone, F., Tartaglia, M., Brown, P., Di Lazzaro, V., Dystonia in Costello syndrome, <>, 2012; 18 (6): 798-800. [doi:10.1016/j.parkreldis.2012.03.015] [http://hdl.handle.net/10807/31509]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/31509
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