A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
Crossref DOI link:
Published Online: 2016-10-21
Published Print: 2016-12
Update policy: https://doi.org/10.1007/SPRINGER_CROSSMARK_POLICY
Akawi, Nadia A.
Ali, Bassam R.
Funding for this research was provided by:
College of Medicine and Health Sciences, United Arab Emirates University (31R017)