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STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity.
Nagtzaam, Ivo F; van Leersum, Frank S; Kouwenberg, Laurie C M; Blok, Marinus J; Vreeburg, Maaike; Steijlen, Peter M; Gostynski, Antoni; van Geel, Michel.
Afiliação
  • Nagtzaam IF; Department of Dermatology.
  • van Leersum FS; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands.
  • Kouwenberg LCM; Department of Dermatology.
  • Blok MJ; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands.
  • Vreeburg M; Department of Dermatology.
  • Steijlen PM; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands.
  • Gostynski A; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, the Netherlands.
  • van Geel M; Department of Clinical Genetics, Maastricht University Medical Centre+, Maastricht, the Netherlands.
Br J Dermatol ; 187(5): 820-822, 2022 11.
Article em En | MEDLINE | ID: mdl-35822528
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ictiose Ligada ao Cromossomo X / Heterogeneidade Genética Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ictiose Ligada ao Cromossomo X / Heterogeneidade Genética Idioma: En Ano de publicação: 2022 Tipo de documento: Article