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Case of autosomal recessive woolly hair/hypotrichosis with a homozygous c.736T>A mutation of LIPH caused by maternal uniparental disomy of chromosome 3.
Tahara, Umi; Ono, Noriko; Aoki, Satomi; Kawai, Tomoko; Nakabayashi, Kazuhiko; Hata, Kenichiro; Amagai, Masayuki; Kubo, Akiharu.
Afiliación
  • Tahara U; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
  • Ono N; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
  • Aoki S; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
  • Kawai T; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Nakabayashi K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Hata K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Amagai M; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
  • Kubo A; Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
J Dermatol ; 47(11): e393-e394, 2020 Nov.
Article en En | MEDLINE | ID: mdl-32783278
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Cabello / Hipotricosis Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Dermatol Año: 2020 Tipo del documento: Article País de afiliación: Japón
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Cabello / Hipotricosis Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Dermatol Año: 2020 Tipo del documento: Article País de afiliación: Japón