Abstract |
Investigators from Erlangen, Germany; Calgary, CA; and Kafranbel, Syria, identified mutations in the gene, fatty acyl-CoA reductase 1 (FAR1) deficiency, adding to three other genes involved in plasmalogen biosynthesis, in two families affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity.
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Authors | Charles N Swisher |
Journal | Pediatric neurology briefs
(Pediatr Neurol Briefs)
Vol. 29
Issue 1
Pg. 6
(Jan 2015)
ISSN: 1043-3155 [Print] United States |
PMID | 26933529
(Publication Type: Journal Article)
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