PIGO deficiency: Palmoplantar keratoderma and novel mutations

Orphanet Journal of Rare Diseases

Volumn 12, Issue 1, 2017, Pages

  Morren, Marie Anne ^a   Jaeken, Jaak ^a,h   Visser, Gepke ^b   Salles, Isabelle ^c   Van Geet, Chris ^a,d   Simeoni, Ilenia ^e,f,i   Turro, Ernest ^e,g,i   Freson, Kathleen ^d  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF LEUVEN   (Belgium)

^e NHS BLOOD AND TRANSPLANT   (United Kingdom)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^h UNIVERSITY HOSPITALS LEUVEN   (Belgium)

ⁱ CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

CDG; Congenital disorder(s) of glycosylation; Glycosylphosphatidylinositol; GPI; Hyperkeratosis; Hyperphosphatasemia; PIGO CDG; Platelet dysfunction

Indexed keywords

ENZYME; PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS O PROTEIN; UNCLASSIFIED DRUG; GLYCOSYLPHOSPHATIDYLINOSITOL; MEMBRANE PROTEIN; PIGO PROTEIN, HUMAN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; EPILEPSY; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPERPHOSPHATASEMIA; MALE; MISSENSE MUTATION; PALMOPLANTAR KERATODERMA; PIGO DEFICIENCY; PIGO GENE; PSYCHOMOTOR DISORDER; THROMBOCYTE DYSFUNCTION; WHOLE EXOME SEQUENCING; ADOLESCENT; DEFICIENCY; GENETICS; METABOLISM; MUTATION;

ADOLESCENT; GLYCOSYLPHOSPHATIDYLINOSITOLS; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MEMBRANE PROTEINS; MUTATION;

EID: 85019560802     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-017-0654-9     Document Type: Article

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