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Article

Rapid detection of homozygous mutations in congenital recessive ichthyosis.

Archives of dermatological research - 1 Feb 2008

Lugassy Jennie, Hennies Hans Christian, Indelman Margarita, Khamaysi Ziad, Bergman Reuven, Sprecher Eli

Abstract excerpt

Congenital recessive ichthyoses (CRI) form a remarkably heterogeneous group of diseases, resulting from mutations in at least eight distinct genes, six of which have been identified so far. In the present study we ascertained two CRI families of Iranian and Druze origins. Exploiting the high degr...

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Source

Identifiers

PMID: 18034255
DOI: 10.1007/s00403-007-0815-0

Genes

TGM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18034255-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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