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Journal article

Dystonia in Costello syndrome.

Abstract:

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 with advanced parental age. Abnormal hand posture has been reported as a typical feature of Costello Syndrome but the pathophysiology of this is unclear. METHODS: We evaluated and described postur...

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Publication status:
Published

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Authors


Dileone, M More by this author
Zampino, G More by this author
Profice, P More by this author
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Journal:
Parkinsonism and related disorders
Volume:
18
Issue:
6
Pages:
798-800
Publication date:
2012-07-05
DOI:
EISSN:
1873-5126
ISSN:
1353-8020
URN:
uuid:0e9c6b75-e38d-4b47-8948-5cb173396d4a
Source identifiers:
325296
Local pid:
pubs:325296

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