Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.
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| Title: | Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features. |
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| Authors: | Jaouadi H; Biomedical Genomics and Oncogenetics Laboratory LR16IPT05, Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia., Kraoua L; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia., Chaker L; Department of Pediatric Cardiology, La Rabta Hospital, Tunis, Tunisia., Atkinson A; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France., Delague V; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France., Levy N; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France., Benkhalifa R; Venoms and Therapeutic Biomolecules Laboratory LR16IPT08, Institut Pasteur de Tunis, Tunis, Tunisia. Rym.BenKhalifa@pasteur.tn., Mrad R; Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia., Abdelhak S; Biomedical Genomics and Oncogenetics Laboratory LR16IPT05, Institut Pasteur de Tunis, Université Tunis El Manar, Tunis, Tunisia., Zaffran S; Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, Marseille, France. stephane.zaffran@univ-amu.fr. |
| Source: | Journal of human genetics [J Hum Genet] 2018 Oct; Vol. 63 (10), pp. 1077-1082. Date of Electronic Publication: 2018 Jul 25. |
| Publication Type: | Case Reports; Clinical Trial; Journal Article |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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