PIGO deficiency: palmoplantar keratoderma and novel mutations

PIGO deficiency: palmoplantar keratoderma and novel mutations

Abstract Background Several genetic defects have been identified in the glycosylphosphatidylinositol (GPI) anchor synthesis, including mutations in PIGO encoding phosphatidylinositol glycan anchor biosynthesis class O protein. These defects constitute a subgroup of the congenital disorders of glycos...

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Bibliographic Details
Main Authors: Marie-Anne Morren, Jaak Jaeken, Gepke Visser, Isabelle Salles, Chris Van Geet, NIHR BioResource, Ilenia Simeoni, Ernest Turro, Kathleen Freson
Format: Article
Language:English
Published: BMC 2017-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
CDG
Congenital disorder(s) of glycosylation
Glycosylphosphatidylinositol
GPI
Hyperkeratosis
Hyperphosphatasemia
Online Access:http://link.springer.com/article/10.1186/s13023-017-0654-9

Internet

http://link.springer.com/article/10.1186/s13023-017-0654-9

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