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Article

Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene.

The Journal of investigative dermatology - 1 Feb 1998

Bichakjian C K, Nair R P, Wu W W, Goldberg S, Elder J T

Abstract excerpt

Lamellar ichthyosis is a severe, generalized, autosomal recessive genodermatosis characterized clinically by large, parchment-like scales and histologically by acanthosis and marked hyperkeratosis. Genetic heterogeneity in lamellar ichthyosis has been recognized with reports of two linked loci (on chromosomes 14q11 and 2q33-35). In a cohort of four small families with lamellar ichthyosis we found confirmatory...

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Identifiers

PMID: 9457916
DOI: 10.1046/j.1523-1747.1998.00104.x

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Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene.PMID 9457916Read ↗

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