仅关注全身性、遗传性（孟德尔式）角化障碍（DOC或MeDOC）。引言。 - Suppr

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Focuses solely on generalized, inherited (Mendelian) disorders of cornification (DOC or MeDOC). Introduction.

作者信息

Elias Peter M, Williams Mary L, Crumrine Debra, Schmuth Matthias

出版信息

Curr Probl Dermatol. 2010;39:1-29. doi: 10.1159/000321082. Epub 2010 Sep 14.

DOI:10.1159/000321082

PMID:20838036

Abstract

摘要

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Focuses solely on generalized, inherited (Mendelian) disorders of cornification (DOC or MeDOC). Introduction.

作者信息

Elias Peter M, Williams Mary L, Crumrine Debra, Schmuth Matthias

出版信息

Curr Probl Dermatol. 2010;39:1-29. doi: 10.1159/000321082. Epub 2010 Sep 14.

DOI:10.1159/000321082

PMID:20838036

Abstract

摘要

相似文献

Focuses solely on generalized, inherited (Mendelian) disorders of cornification (DOC or MeDOC). Introduction.

Curr Probl Dermatol. 2010;39:1-29. doi: 10.1159/000321082. Epub 2010 Sep 14.

[Differential diagnosis of autosomal-dominant chthyosis vulgaris and X-chromosome ichthyosis].

Hautarzt. 1974 Jul;25(7):319-25.

[Clinical presentation and etiology of ichthyoses. Overview of the new nomenclature and classification].

Hautarzt. 2010 Oct;61(10):891-902; quiz 903-4. doi: 10.1007/s00105-010-2018-4.

Inherited ichthyoses/generalized Mendelian disorders of cornification.

Eur J Hum Genet. 2013 Feb;21(2):123-33. doi: 10.1038/ejhg.2012.121. Epub 2012 Jun 27.

Ichthyoses: differential diagnosis and molecular genetics.

Eur J Dermatol. 2006 Jul-Aug;16(4):349-59.

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.

Nat Genet. 1994 Aug;7(4):485-90. doi: 10.1038/ng0894-485.

Molecular genetics of the inherited disorders of cornification: an update.

Adv Dermatol. 2002;18:111-49.

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.

Am J Clin Dermatol. 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x.

[Clinico-genetic classification of ichthyosis].

Vestn Dermatol Venerol. 1974 Jun;0(6):36-43.

Inherited disorders of corneocyte proteins.

Curr Probl Dermatol. 2010;39:98-131. doi: 10.1159/000321086. Epub 2010 Sep 14.

引用本文的文献

A cellular disease model toward gene therapy of -dependent lamellar ichthyosis.

Mol Ther Methods Clin Dev. 2024 Jul 31;32(3):101311. doi: 10.1016/j.omtm.2024.101311. eCollection 2024 Sep 12.

Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment.

Am J Clin Dermatol. 2018 Feb;19(1):51-66. doi: 10.1007/s40257-017-0313-x.

Natural and sun-induced aging of human skin.

Cold Spring Harb Perspect Med. 2015 Jan 5;5(1):a015370. doi: 10.1101/cshperspect.a015370.