Published in
BMC, Orphanet Journal of Rare Diseases, 1(11)
DOI: 10.1186/s13023-016-0526-8
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A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
Journal article published in 2016 by
Nadia A. Akawi,
Salma Ben-Salem,
Jozef Hertecant,
Anne John,
Thachillath Pramathan,
Praseetha Kizhakkedath,
Bassam R. Ali,
Lihadh Al-Gazali
This paper is made freely available by the publisher.
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