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Article

KLK11-Related Disorder of Cornification Presenting as Inflammatory Skin Disease: A Familial Case Report and Literature Review.

American journal of medical genetics. Part A - 1 Jun 2025

Eiumtrakul Wongsathorn, Wittayakornrerk Sanchawan, Wongkittichote Parith, Nujaroen Saisuda, Pakhathirathien Pattima, Wattanasirichaigoon Duangrurdee

Abstract excerpt

Mendelian disorders of cornification (MeDoC) are a group of heterogeneous inherited skin disorders characterized by hyperkeratosis or scaling. Clinical assessment and skin biopsy are primarily used to differentiate MeDoC from overlapping diseases, including inflammatory skin diseases, and to identify the specific type of MeDoC; however, the results can sometimes be inconclusive. We present two individuals from a...

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Identifiers

PMID: 39902525
DOI: 10.1002/ajmg.a.64018

Genes

KLK11

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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