A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

Overview of attention for article published in Orphanet Journal of Rare Diseases, October 2016

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RT @varsome: Splicing #mutation https://t.co/1jqehpyqrp linked to #intellectual #disability w/t #cardiac involvement #RareDisease https://t…

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Splicing #mutation https://t.co/1jqehpyqrp linked to #intellectual #disability w/t #cardiac involvement #RareDisease https://t.co/grKCvqmVos

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A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability wit... https://t.co/rG9QpiN78o

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