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Clinical heterogeneity of NADSYN1-associated VCRL syndrome.
Aubert-Mucca, Marion; Janel, Caroline; Porquet-Bordes, Valérie; Patat, Olivier; Touraine, Renaud; Edouard, Thomas; Michot, Caroline; Tessier, Aude; Cormier-Daire, Valérie; Attie-Bitach, Tania; Baujat, Geneviève.
Afiliação
  • Aubert-Mucca M; Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, Toulouse, France.
  • Janel C; Endocrine, Bone Diseases and Genetics Unit, Reference Centre for Rare Diseases of Calcium and Phosphate Metabolism, ERN BOND, OSCAR Network, Children's Hospital, Toulouse University Hospital, RESTORE, INSERM U1301, Toulouse, France.
  • Porquet-Bordes V; Service de Biochimie et Génétique Moléculaire, CHU Gabriel Montpied, & Laboratoire AURAGEN, Clermont-Ferrand, France.
  • Patat O; Endocrine, Bone Diseases and Genetics Unit, Reference Centre for Rare Diseases of Calcium and Phosphate Metabolism, ERN BOND, OSCAR Network, Children's Hospital, Toulouse University Hospital, RESTORE, INSERM U1301, Toulouse, France.
  • Touraine R; Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, Toulouse, France.
  • Edouard T; Service de Génétique Clinique, Chromosomique et Moléculaire, CHU-Hôpital Nord, & Laboratoire AURAGEN, Saint Étienne, France.
  • Michot C; Endocrine, Bone Diseases and Genetics Unit, Reference Centre for Rare Diseases of Calcium and Phosphate Metabolism, ERN BOND, OSCAR Network, Children's Hospital, Toulouse University Hospital, RESTORE, INSERM U1301, Toulouse, France.
  • Tessier A; Service de Médecine Génomique des Maladies rares, AP-HP, Bone Diseases expert center, OSCAR network, ERN BOND, Hôpital Necker-Enfants-malades, Paris, France.
  • Cormier-Daire V; Service de Médecine Génomique des Maladies rares, AP-HP, Bone Diseases expert center, OSCAR network, ERN BOND, Hôpital Necker-Enfants-malades, Paris, France.
  • Attie-Bitach T; Service de Médecine Génomique des Maladies rares, AP-HP, Bone Diseases expert center, OSCAR network, ERN BOND, Hôpital Necker-Enfants-malades, Paris, France.
  • Baujat G; Université Paris Cité, INSERM UMR 1163, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.
Clin Genet ; 104(1): 114-120, 2023 07.
Article em En | MEDLINE | ID: mdl-36951206
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Carbono-Nitrogênio Ligases com Glutamina como Doadora de N-Amida / NAD Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Carbono-Nitrogênio Ligases com Glutamina como Doadora de N-Amida / NAD Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França