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Article

Identification of a novel locus associated with congenital recessive ichthyosis on 12p11.2-q13.

The Journal of investigative dermatology - 1 Sept 2005

Mizrachi-Koren Mordechai, Geiger Dan, Indelman Margarita, Bitterman-Deutsch Ora, Bergman Reuven, Sprecher Eli

Abstract excerpt

Congenital recessive ichthyoses represent a vast and markedly heterogeneous group of diseases that have been mapped to at least seven distinct chromosomal loci. In this study, we ascertained two consanguineous families presenting with congenital ichthyosis. Using homozygosity mapping, we identified a 6.5 cM homozygous region on 12p11.2-q13 shared by all affected individuals. Multipoint logarithm of odds ratio...

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Share to Antigens, Neoplasm
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 12

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Source

Identifiers

PMID: 16117785
DOI: 10.1111/j.0022-202X.2005.23777.x

Genes

PPHLN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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