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...
Váldodahkkit: | , , , , , , , , , |
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Materiálatiipa: | Journal article |
Giella: | English |
Almmustuhtton: |
2012
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