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A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Saadi, Abdelkrim; Navarro, Claire; Ozalp, Ozge; Lourenco, Charles Marques; Fayek, Racha; Da Silva, Nathalie; Chaouch, Athmane; Benahmed, Meryem; Kubisch, Christian; Munnich, Arnold; Lévy, Nicolas; Roll, Patrice; Pacha, Lamia Ali; Chaouch, Malika; Lessel, Davor; De Sandre-Giovannoli, Annachiara.
Afiliación
  • Saadi A; Service de neurologie, Etablissement Hospitalier Specialisé de Ben Aknoun, Université Benyoucef Benkhedda, Algiers, Algeria.
  • Navarro C; Laboratoire de Neurosciences, Service de neurologie, Centre Hospitalo Universitaire Mustapha Bacha, Université Benyoucef Benkhedda Alger, Algiers, Algeria.
  • Ozalp O; INSERM, MMG, Aix Marseille University, Marseille, France.
  • Lourenco CM; Neoflow Therapeutics, 61 boulevard des Dames, 13002, Marseille, France.
  • Fayek R; Genetic Diagnosis Center, Adana City Training and Research Hospital University of Health Sciences, Adana, Turkey.
  • Da Silva N; Neurogenetics Unit-Inborn Errors of Metabolism Clinics, National Reference Center for Rare Diseases, Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, Brazil.
  • Chaouch A; Department of Specialized Education, Personalized Medicine Area, DLE/Grupo Pardini, Rio de Janeiro, Brazil.
  • Benahmed M; INSERM, MMG, Aix Marseille University, Marseille, France.
  • Kubisch C; INSERM, MMG, Aix Marseille University, Marseille, France.
  • Munnich A; Service de neurophysiologie, Etablissement Hospitalier Specialisé, Algiers, Algeria.
  • Lévy N; Service d'anatomo-pathologie, Centre Pierre Marie Curie, Algiers, Algeria.
  • Roll P; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Pacha LA; Department of Clinical Genetics, Institut de Recherche Necker Enfants Malades, Paris, France.
  • Chaouch M; INSERM, MMG, Aix Marseille University, Marseille, France.
  • Lessel D; Department of Medical Genetics, La Timone Hospital, APHM, Marseille, France.
  • De Sandre-Giovannoli A; INSERM, MMG, Aix Marseille University, Marseille, France.
Am J Med Genet A ; 191(9): 2274-2289, 2023 09.
Article en En | MEDLINE | ID: mdl-37387251
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Progeria / Envejecimiento Prematuro / Disostosis / Lipodistrofia Parcial Familiar / Distrofias Musculares Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Argelia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Progeria / Envejecimiento Prematuro / Disostosis / Lipodistrofia Parcial Familiar / Distrofias Musculares Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Argelia Pais de publicación: Estados Unidos