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Paper Details

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
Mol Genet Metab
40
2015
918dupC, CDG, CDGs, Hypotonia-Seizures Syndrome, Multiple Congenital Anomalies, N, PIGT, PIGT-CDG, albumin, autosomal recessive syndromic intellectual disability disorder, c.1342C, c.1342C > T, c.918dupC, carbohydrate, carbohydrate-deficient transferrin, children, congenital disorders of glycosylation, disorder of, dysmorphic facial features, endocrine, ophthalmologic, skeletal, hearing, and cardiac anomalies, global developmental delay, glycosylphosphatidylinositol, granulocytes, hearing loss, heteropentameric transamidase complex, hypermobility, hypotonia, intractable seizures, phosphatidylinositol, phosphatidylinositol-glycan biosynthesis class T, seizure disorders, transferrin
Author NameAffiliation
Gretchen GolasOffice of the Clinical Director, USA NIH Undiagnosed Diseases Program
Mariska DavidsOffice of the Clinical Director, USA NIH Undiagnosed Diseases Program
Mariska DavidsOffice of the Clinical Director, USA NIH Undiagnosed Diseases Program
Megan S KaneOffice of the Clinical Director, USA NIH Undiagnosed Diseases Program
May Christine V Malicdan
May Christine V Malicdan
David R AdamsOffice of the Clinical Director, USA NIH Undiagnosed Diseases Program
David R AdamsOffice of the Clinical Director, USA NIH Undiagnosed Diseases Program
Thomas C Markello
Sergio D RosenzweigClinical Center
Carlos R FerreiraOffice of the Clinical Director
Cornelius F Boerkoel
Cornelius F Boerkoel
William A GahlOffice of the Clinical Director, USA NIH Undiagnosed Diseases Program
William A GahlOffice of the Clinical Director, USA NIH Undiagnosed Diseases Program
Lynne A WolfeOffice of the Clinical Director, USA NIH Undiagnosed Diseases Program
Lynne A WolfeOffice of the Clinical Director, USA NIH Undiagnosed Diseases Program
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