PIGO deficiency: palmoplantar keratoderma and novel mutations

被引：0

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;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

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