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DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Capri, Yline; Bourmance, Lucas; Dupont, Céline; Saint-Frison, Marie-Hélène; Guimiot, Fabien; Grotto, Sarah; Chitrit, Yvon; Laquerrière, Annie; Melki, Judith.
Afiliação
  • Capri Y; Clinical Genetics Unit, AP-HP Nord, Hôpital Robert Debré, Paris, France.
  • Bourmance L; Institut National de la Santé et de la Recherche Médicale (INSERM), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, France.
  • Dupont C; Institut National de la Santé et de la Recherche Médicale (INSERM), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, France.
  • Saint-Frison MH; Cytogenetics Unit, AP-HP Nord, Hôpital Robert Debré, Paris, France.
  • Guimiot F; Foetopathology Unit, AP-HP Nord, Hôpital Robert Debré, Paris, France.
  • Grotto S; Foetopathology Unit, AP-HP Nord, Hôpital Robert Debré, Paris, France.
  • Chitrit Y; INSERM UMR-1141, Université Paris Nord, Hôpital Robert Debré, Paris, France.
  • Laquerrière A; Maternité Port-Royal, AP-HP Centre, Université Paris Cité, Hôpital Cochin, Paris, France.
  • Melki J; Obstetric Department, AP-HP Nord, Hôpital Robert Debré, Paris, France.
Clin Genet ; 104(5): 587-592, 2023 11.
Article em En | MEDLINE | ID: mdl-37431644
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Neuropatias Hereditárias Sensoriais e Autônomas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Pregnancy Idioma: En 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: Artrogripose / Neuropatias Hereditárias Sensoriais e Autônomas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Female / Humans / Pregnancy Idioma: En Ano de publicação: 2023 Tipo de documento: Article