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Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1.
Dame, Christof; Horn, Denise; Schomburg, Lutz; Grünhagen, Johannes; Chillon, Thilo Samson; Tietze, Anna; Vogt, Annika; Bührer, Christoph.
Afiliação
  • Dame C; Department of Neonatology, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Horn D; Department of Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Schomburg L; Department of Experimental Endocrinology, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Grünhagen J; Department of Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Chillon TS; Department of Human Genetics, Labor Berlin Charité Vivantes, Berlin, Germany.
  • Tietze A; Department of Experimental Endocrinology, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Vogt A; Department of Neuroradiology, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Bührer C; Department of Dermatology, Charité Universitätsmedizin Berlin, Berlin, Germany.
Clin Genet ; 103(5): 585-589, 2023 05.
Article em En | MEDLINE | ID: mdl-36562171
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transportador de Cobre 1 / Degeneração Hepatolenticular / Síndrome dos Cabelos Torcidos Limite: Humans / Infant / Newborn Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transportador de Cobre 1 / Degeneração Hepatolenticular / Síndrome dos Cabelos Torcidos Limite: Humans / Infant / Newborn Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article