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Article

Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population.

Experimental dermatology - 1 Sept 2021

Mohamad Janan, Samuelov Liat, Malchin Natalia, Rabinowitz Tom, Assaf Sari, Malki Liron, Malovitski Kiril, Israeli Shirli, Grafi-Cohen Meital, Bitterman-Deutsch Ora, Molho-Pessach Vered, Cohen-Barak Eran, Bach Gideon, Garty Ben Zion, Bergman Reuven, Harel Avikam, Nanda Arti, Lestringant Giles G, McGrath John, Shalev Stavit, Shomron Noam, Mashiah Jacob, Eskin-Schwartz Marina, Sprecher Eli, Sarig Ofer

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) through the most severe form of ARCI, Harlequin ichthyosis (HI). We used homozygosity mapping, whole-exome and direct sequencing to...

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PMID: 33786896
DOI: 10.1111/exd.14345

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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