Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes. [electronic resource]
- Journal of child neurology Oct 2013
- 1259-65 p. digital
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
1708-8283
10.1177/0883073812460581 doi
Aldehyde Oxidoreductases--genetics Child, Preschool Female Fibroblasts--metabolism Humans Ichthyosis--genetics Lipid Metabolism--genetics Male Mutation Phenotype Severity of Illness Index Sjogren-Larsson Syndrome--genetics