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)
Cited by 21
Related Papers
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
|Nature Genetics|2009|412
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
|Nature Genetics|2006|402
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
|The American Journal of Human Genetics|2008|399