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Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.

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Bibliographic Details
Title:	Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.
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

Description
ISSN:	1435-232X
DOI:	10.1038/s10038-018-0492-1