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Article

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

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PMID: 33452671
DOI: 10.1111/bjd.19815

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

Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature.Semantic proximity Read ↗

Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.Semantic proximity Read ↗

Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review.Semantic proximity Read ↗

A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.Semantic proximity Read ↗

Clinical, biochemical and cell biological characterization of KIDAR syndrome associated with a novel AP1B1 variantSemantic proximity Read ↗

Genotype-Phenotype Correlations, Mortality, and Clinical Insights in Keratitis-Ichthyosis-Deafness Syndrome: A Comprehensive Review and Case Report.Semantic proximity Read ↗

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