PIGO deficiency: palmoplantar keratoderma and novel mutations.

Morren, Marie-Anne

PIGO deficiency: palmoplantar keratoderma and novel mutations. [electronic resource] - Orphanet journal of rare diseases 05 2017 - 101 p. digital

Publication Type: Case Reports; Letter; Review; Research Support, Non-U.S. Gov't

1750-1172

10.1186/s13023-017-0654-9 doi


Adolescent
Glycosylphosphatidylinositols--deficiency
Humans
Keratoderma, Palmoplantar--diagnosis
Male
Membrane Proteins--deficiency
Mutation--genetics