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

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Standard

A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance. / Larsen, Christian Grønhøj; Gyldenløve, Mette; Jønch, Aia Elise; Charabi, Birgitte Wittenborg; Tümer, Zeynep.

I: Case Reports in Otolaryngology, Bind 2015, 683938, 2015, s. 1-3.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Larsen, CG, Gyldenløve, M, Jønch, AE, Charabi, BW & Tümer, Z 2015, 'A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance', Case Reports in Otolaryngology, bind 2015, 683938, s. 1-3. https://doi.org/10.1155/2015/683938

APA

Larsen, C. G., Gyldenløve, M., Jønch, A. E., Charabi, B. W., & Tümer, Z. (2015). A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance. Case Reports in Otolaryngology, 2015, 1-3. [683938]. https://doi.org/10.1155/2015/683938

Vancouver

Larsen CG, Gyldenløve M, Jønch AE, Charabi BW, Tümer Z. A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance. Case Reports in Otolaryngology. 2015;2015:1-3. 683938. https://doi.org/10.1155/2015/683938

Author

Larsen, Christian Grønhøj ; Gyldenløve, Mette ; Jønch, Aia Elise ; Charabi, Birgitte Wittenborg ; Tümer, Zeynep. / A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance. I: Case Reports in Otolaryngology. 2015 ; Bind 2015. s. 1-3.

Bibtex

@article{481dfb849cc64942bfd825b3c19999dd,
title = "A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance",
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.",
author = "Larsen, {Christian Gr{\o}nh{\o}j} and Mette Gyldenl{\o}ve and J{\o}nch, {Aia Elise} and Charabi, {Birgitte Wittenborg} and Zeynep T{\"u}mer",
year = "2015",
doi = "10.1155/2015/683938",
language = "English",
volume = "2015",
pages = "1--3",
journal = "Case Reports in Otolaryngology",
issn = "2090-6765",
publisher = "Hindawi Publishing Corporation",

}

RIS

TY - JOUR

T1 - A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance

AU - Larsen, Christian Grønhøj

AU - Gyldenløve, Mette

AU - Jønch, Aia Elise

AU - Charabi, Birgitte Wittenborg

AU - Tümer, Zeynep

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

U2 - 10.1155/2015/683938

DO - 10.1155/2015/683938

M3 - Journal article

C2 - 25685580

VL - 2015

SP - 1

EP - 3

JO - Case Reports in Otolaryngology

JF - Case Reports in Otolaryngology

SN - 2090-6765

M1 - 683938

ER -

ID: 161731419