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A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance

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Authors:
  • Larsen, Christian Grønhøj ;
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    unknown
  • Gyldenløve, Mette ;
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    unknown
  • Jønch, Aia Elise ;
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    unknown
  • Charabi, Birgitte Wittenborg ;
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    Department of Clinical Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
  • Tümer, Zeynep
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    Department of Clinical Medicine, Department of Clinical Medicine, Faculty of Health and Medical Sciences, Københavns Universitet
DOI:
10.1155/2015/683938
Abstract:
Idiopathic facial palsy (IFP), also known as Bell's palsy, is a common neurologic disorder, but recurrent and familial forms are rare. This case series presents a three-generation family with idiopathic facial palsy. The mode of inheritance of IFP has previously been suggested as autosomal dominant with low or variable penetrance, but the present family indicates an autosomal dominant trait with high or complete penetrance. Chromosome microarray studies did not reveal a pathogenic copy number variation, which could enable identification of a candidate gene.
Type:
Journal article
Language:
English
Published in:
Case Reports in Otolaryngology, 2015, Vol 2015, p. 1-3
Keywords:
Journal Article
Main Research Area:
Medical science
Publication Status:
Published
Review type:
Peer Review
Submission year:
2015
Scientific Level:
Scientific
ID:
2262947872

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