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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ichthyosis
Comorbidity C0037274|skin diseases
Sentences 1
PubMedID- 20236940 Recently, heterozygous loricrin gene mutations have been identified in two dominantly inherited skin diseases, vohwinkel syndrome with ichthyosis and progressive symmetric erythrokeratoderma, collectively termed loricrin keratoderma.

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