(Q28205311)

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A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome

scientific article (publication date: May 2002)

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A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome (English)

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J O'Driscoll

1

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G C Muston

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2

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J A McGrath

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3

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H M Lam

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4

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J Ashworth

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5

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A M Christiano

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6

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language of work or name

English

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publication date

May 2002

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published in

Clinical and Experimental Dermatology

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volume

27

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issue

3

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page(s)

243-6

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cites work

Keratoma hereditarium mutilans

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https://api.crossref.org/works/10.1046%2FJ.1365-2230.2002.01031.X

retrieved

21 January 2018

Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin

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reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2002.01031.X

retrieved

21 January 2018

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

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https://api.crossref.org/works/10.1046%2FJ.1365-2230.2002.01031.X

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21 January 2018

Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis

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reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2002.01031.X

retrieved

21 January 2018

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

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https://api.crossref.org/works/10.1046%2FJ.1365-2230.2002.01031.X

retrieved

21 January 2018

The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2002.01031.X

retrieved

21 January 2018

Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma

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reference URL

https://api.crossref.org/works/10.1046%2FJ.1365-2230.2002.01031.X

retrieved

21 January 2018

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DOI

10.1046/J.1365-2230.2002.01031.X

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PubMed publication ID

12072018

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(Q28205311)

A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome

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