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Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.

The British journal of dermatology - 1 Jun 2021

Vornweg J, Gläser S, Ahmad-Anwar M, Zimmer A D, Kuhn M, Hörer S, Korenke G C, Grothaus J, Ott H, Fischer J

Abstract excerpt

No abstract is available from the source.

Topics

Adaptor Protein Complex 1
Adaptor Protein Complex beta Subunits
Connexin 26
Connexins
Corneal Dystrophies, Hereditary
Deafness
Female
Humans
Ichthyosis
Infant, Newborn
Keratitis
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33452671
DOI: 10.1111/bjd.19815

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.PMID 33452671Read ↗

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