Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia.

Donkervoort, S

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia. [electronic resource] - Clinical genetics Apr 2014 - 393-5 p. digital

Publication Type: Case Reports; Letter; Research Support, N.I.H., Intramural

1399-0004

10.1111/cge.12185 doi


Adolescent
Child
Child, Preschool
Female
Founder Effect
Humans
Male
Mixed Function Oxygenases--genetics
Mutation
Pedigree
Phenotype
Siblings
Spastic Paraplegia, Hereditary--etiology