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Whole-exome sequencing reveals a retinitis pigmentosa-causative PRPH2 variant as a secondary finding in a patient with pseudoxanthoma elasticum.
Miyazaki, Akira; Takeichi, Takuya; Tanahashi, Kana; Taki, Tomoki; Taki, Yosuke; Muro, Yoshinao; Akiyama, Masashi.
Afiliação
  • Miyazaki A; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Takeichi T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Tanahashi K; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Taki T; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Taki Y; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
  • Muro Y; Department of Ophthalmology, Tokyo Dental College Ichikawa General Hospital, Chiba, Japan.
  • Akiyama M; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
J Dermatol ; 50(2): e85-e86, 2023 02.
Article em En | MEDLINE | ID: mdl-36285378
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pseudoxantoma Elástico / Retinose Pigmentar Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pseudoxantoma Elástico / Retinose Pigmentar Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article