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Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.
Marconi, Caterina; Lemmens, Laure; Masclaux, Frédéric; Mattioli, Francesca; Fluss, Joël; Extermann, Philippe; Mendez, Purificacion; Leuchter, Russia Ha-Vinh; Stathaki, Elissavet; Laurent, Sacha; Hammar, Eva; Vannier, Anne; Varvagiannis, Konstantinos; Guipponi, Michel; Sloan-Bena, Frédérique; Blouin, Jean-Louis; Abramowicz, Marc; Fokstuen, Siv.
Afiliação
  • Marconi C; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Lemmens L; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Masclaux F; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Mattioli F; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Fluss J; Pediatric Specialties division, Department of Women, Children and Adolescents, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Extermann P; Prenatal Ultrasonography, Dianecho, Genève (CH), Switzerland.
  • Mendez P; Obstetrics and Gynecology, Centre Médical Eaux-Vives, Genève (CH), Switzerland.
  • Leuchter RH; Pediatric Specialties division, Department of Women, Children and Adolescents, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Stathaki E; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Laurent S; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Hammar E; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Vannier A; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Varvagiannis K; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Guipponi M; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Sloan-Bena F; Department of Genetic Medicine and Development, School of Medicine, University of Geneva, Genève (CH), Switzerland.
  • Blouin JL; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
  • Abramowicz M; Department of Genetic Medicine and Development, School of Medicine, University of Geneva, Genève (CH), Switzerland.
  • Fokstuen S; Genetic Medicine division, Diagnostic Department, Hôpitaux Universitaires de Genève, Genève (CH), Switzerland.
Clin Genet ; 100(3): 329-333, 2021 09.
Article em En | MEDLINE | ID: mdl-34037256
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artrogripose / Proteínas de Transporte Vesicular Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Artrogripose / Proteínas de Transporte Vesicular Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article