PIGO deficiency: palmoplantar keratoderma and novel mutations

被引：0
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作者：
Marie-Anne Morren
Jaak Jaeken
Gepke Visser
Isabelle Salles
Chris Van Geet
Ilenia Simeoni
Ernest Turro
Kathleen Freson
机构：
[1] University of Leuven,Departments of Dermatology
[2] University of Leuven,Pediatrics
[3] Wilhelmina Children’s Hospital,Department of Pediatrics
[4] Imperial College,Centre for Hematology
[5] University of Leuven,Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology
[6] Cambridge Biomedical Campus,NHS Blood and Transplant
[7] University of Cambridge,Department of Haematology
[8] Cambridge Biomedical Campus,Medical Research Council Biostatistics Unit
[9] Cambridge Institute of Public Health,Department of Pediatrics, Center for Metabolic Diseases
[10] Cambridge Biomedical Campus,NIHR BioResource
[11] University Hospital Gasthuisberg, Rare Diseases
[12] Cambridge University Hospitals,undefined
[13] Cambridge Biomedical Campus,undefined
来源：
Orphanet Journal of Rare Diseases | / 12卷
关键词：
CDG; Congenital disorder(s) of glycosylation; Glycosylphosphatidylinositol; GPI; Hyperkeratosis; Hyperphosphatasemia; PIGO-CDG; Platelet dysfunction;
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