Dystonia in Costello syndrome.

BACKGROUND: 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...

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Detaylı Bibliyografya
Asıl Yazarlar: Dileone, M, Zampino, G, Profice, P, Pilato, F, Leoni, C, Ranieri, F, Capone, F, Tartaglia, M, Brown, P, Di Lazzaro, V
Materyal Türü: Journal article
Dil:English
Baskı/Yayın Bilgisi: 2012