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Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.

Autosomal recessive lamellar ichthyosis is a severe congenital disorder of keratinization, characterized by variable erythema of the whole body surface and by different scaling patterns. Recently, mutations have been identified in patients with lamellar ichthyosis in the TGM1 gene coding for keratin...

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Autores principales: Hennies, H C, Küster, W, Wiebe, V, Krebsová, A, Reis, A
Formato: Artigo
Lenguaje:Inglês
Publicado: 1998
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377076/
https://ncbi.nlm.nih.gov/pubmed/9545389
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