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Article

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.

Journal of dermatological science - 1 Nov 2013

Sugiura Kazumitsu, Takeichi Takuya, Tanahashi Kana, Ito Yasutomo, Kosho Tomoki, Saida Ken, Uhara Hisashi, Okuyama Ryuhei, Akiyama Masashi

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PMID: 23871423
DOI: 10.1016/j.jdermsci.2013.06.008

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Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.PMID 23871423Read ↗

CYP4F22 p.V215D is a novel variant causative for lamellar ichthyosis.Semantic proximity Read ↗

Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.Semantic proximity Read ↗

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Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations.Semantic proximity Read ↗

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Lamellar ichthyosis caused by a previously unreported homozygous ALOXE3 mutation in East Asia.Semantic proximity Read ↗

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