Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes.

Davis, Kathleen

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