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Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family.
Charfeddine, Cherine; Dallali, Hamza; Abdessalem, Ghaith; Ghedira, Kais; Hamdi, Yosr; Elouej, Sahar; Landoulsi, Zied; Delague, Valérie; Lagarde, Arnaud; Levy, Nicolas; El-Amraoui, Aziz; Boubaker, Mohamed Samir; Abdelhak, Sonia; Mokni, Mourad.
Afiliación
  • Charfeddine C; Laboratory of Biomedical Genomics and Oncogenetics, LR16IPT05, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia. cherine.charfeddine@gmail.com.
  • Dallali H; High Institute of Biotechnology of Sidi Thabet, Biotechpole of Sidi Thabet, University of Manouba, 2020, Ariana, Tunisia. cherine.charfeddine@gmail.com.
  • Abdessalem G; Laboratory of Biomedical Genomics and Oncogenetics, LR16IPT05, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Ghedira K; Laboratory of Biomedical Genomics and Oncogenetics, LR16IPT05, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Hamdi Y; Laboratory of Bioinformatics, Biomathematics and Biostatistics - LR16IPT09, Pasteur Institute of Tunis, University Tunis El Manar, Tunis, Tunisia.
  • Elouej S; Laboratory of Biomedical Genomics and Oncogenetics, LR16IPT05, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Landoulsi Z; Laboratory of Biomedical Genomics and Oncogenetics, LR16IPT05, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Delague V; Marseille Medical Genetics U 1251, Aix Marseille Université Faculté de Médecine de la Timone, Marseille, France.
  • Lagarde A; Laboratory of Biomedical Genomics and Oncogenetics, LR16IPT05, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Levy N; Bioinformatics Core, Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-Sur-Alzette, Luxembourg.
  • El-Amraoui A; Marseille Medical Genetics U 1251, Aix Marseille Université Faculté de Médecine de la Timone, Marseille, France.
  • Boubaker MS; Marseille Medical Genetics U 1251, Aix Marseille Université Faculté de Médecine de la Timone, Marseille, France.
  • Abdelhak S; Marseille Medical Genetics U 1251, Aix Marseille Université Faculté de Médecine de la Timone, Marseille, France.
  • Mokni M; Génétique et Physiologie de l'Audition, Institut Pasteur, INSERM UMRS1120, Sorbonne University, 75015, Paris, France.
J Hum Genet ; 65(4): 397-410, 2020 Apr.
Article en En | MEDLINE | ID: mdl-31911611
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cadherinas / Mutación Missense / Trastornos de los Cromosomas / Eritroqueratodermia Variable / Genes Dominantes Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Túnez Pais de publicación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cadherinas / Mutación Missense / Trastornos de los Cromosomas / Eritroqueratodermia Variable / Genes Dominantes Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Aged / Female / Humans / Male Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Túnez Pais de publicación: Reino Unido