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Novel homozygous missense mutation c.1654G>T in the ALOX12B gene causing congenital ichthyosiform erythroderma.
Mae, Kotoe; Kawakami, Yoshio; Kajita, Ai; Takeichi, Takuya; Noda, Tatsuhiro; Hirai, Yoji; Akiyama, Masashi; Morizane, Shin.
Afiliação
  • Mae K; Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan.
  • Kawakami Y; Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan.
  • Kajita A; Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan.
  • Takeichi T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Noda T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Hirai Y; Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan.
  • Akiyama M; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Morizane S; Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan.
J Dermatol ; 50(1): e37-e38, 2023 01.
Article em En | MEDLINE | ID: mdl-36258281
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Eritrodermia Ictiosiforme Congênita / Mutação de Sentido Incorreto Limite: Humans Idioma: En Revista: J Dermatol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Eritrodermia Ictiosiforme Congênita / Mutação de Sentido Incorreto Limite: Humans Idioma: En Revista: J Dermatol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão