Additional file 1: of A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
Nadia Akawi(United Arab Emirates University), Lihadh Al‐Gazali(United Arab Emirates University), Salma Ben‐Salem(Cleveland Clinic), Bassam R. Ali(Abu Dhabi University), Jozef Hertecant(Tawam Hospital), Thachillath Pramathan(United Arab Emirates University), Anne John(United Arab Emirates University), Praseetha Kizhakkedath(Institut thématique Génétique, génomique et bioinformatique)
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