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

Tahara, Umi; Ono, Noriko; Aoki, Satomi; Kawai, Tomoko; Nakabayashi, Kazuhiko; Hata, Kenichiro; Amagai, Masayuki; Kubo, Akiharu.

Afiliação

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 em En | MEDLINE | ID: mdl-32783278

Assuntos

Doenças do Cabelo; Hipotricose; Cromossomos Humanos Par 3; Genes Recessivos; Cabelo; Doenças do Cabelo/genética; Humanos; Hipotricose/diagnóstico; Hipotricose/genética; Mutação; Linhagem; Dissomia Uniparental/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Cabelo / Hipotricose Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: J Dermatol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Japão

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