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Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.
Chikhaoui, Asma; Kraoua, Ichraf; Calmels, Nadège; Bouchoucha, Sami; Obringer, Cathy; Zayoud, Khouloud; Montagne, Benjamin; M'rad, Ridha; Abdelhak, Sonia; Laugel, Vincent; Ricchetti, Miria; Turki, Ilhem; Yacoub-Youssef, Houda.
Affiliation
  • Chikhaoui A; Laboratory of Biomedical Genomics and Oncogenetics (LR20IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, BP 74, 13 Place Pasteur, 1002, Tunis-Belvedere, Tunisia.
  • Kraoua I; Laboratory of Biomedical Genomics and Oncogenetics (LR20IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, BP 74, 13 Place Pasteur, 1002, Tunis-Belvedere, Tunisia.
  • Calmels N; LR18SP04 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, 1007, Tunis, Tunisia.
  • Bouchoucha S; Laboratoires de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Obringer C; Laboratoire de Génétique Médicale, INSERM UMR1112, Institut de Génétique Médicale d'Alsace, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Zayoud K; Laboratory of Biomedical Genomics and Oncogenetics (LR20IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, BP 74, 13 Place Pasteur, 1002, Tunis-Belvedere, Tunisia.
  • Montagne B; Service Orthopédie, Hôpital d'enfant Béchir Hamza, Tunis, Tunisia.
  • M'rad R; Laboratoire de Génétique Médicale, INSERM UMR1112, Institut de Génétique Médicale d'Alsace, Faculté de Médecine de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Abdelhak S; Laboratory of Biomedical Genomics and Oncogenetics (LR20IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, BP 74, 13 Place Pasteur, 1002, Tunis-Belvedere, Tunisia.
  • Laugel V; Institut Pasteur, Team Stability of Nuclear and Mitochondrial DNA, Stem Cells and Development, UMR 3738 CNRS, 25-28 rue du Dr. Roux, 75015, Paris, France.
  • Ricchetti M; Service des Maladies Congénitales et Héréditaires de l'Hôpital Charles Nicolle, Tunis, Tunisia.
  • Turki I; Human Genetics Laboratory (LR99ES10), Faculté de Médicine de Tunis, LR99ES10 Human Genetics Laboratory, Université Tunis El Manar, 1007, Tunis, Tunisia.
  • Yacoub-Youssef H; Laboratory of Biomedical Genomics and Oncogenetics (LR20IPT05), Institut Pasteur de Tunis, Université Tunis El Manar, El Manar I, BP 74, 13 Place Pasteur, 1002, Tunis-Belvedere, Tunisia.
Orphanet J Rare Dis ; 17(1): 121, 2022 03 05.
Article in En | MEDLINE | ID: mdl-35248096
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cockayne Syndrome Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2022 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cockayne Syndrome Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Orphanet J Rare Dis Journal subject: MEDICINA Year: 2022 Document type: Article Affiliation country: Country of publication: