A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
Crossref DOI link: https://doi.org/10.1186/s13023-016-0526-8
Published Online: 2016-10-21
Published Print: 2016-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Akawi, Nadia A.
Ben-Salem, Salma
Hertecant, Jozef
John, Anne
Pramathan, Thachillath
Kizhakkedath, Praseetha
Ali, Bassam R.
Al-Gazali, Lihadh
Funding for this research was provided by:
College of Medicine and Health Sciences, United Arab Emirates University (31R017)