PMM2‐CDG caused by uniparental disomy: Case report and literature review-Reference-Cited by-同舟云学术

PMM2‐CDG caused by uniparental disomy: Case report and literature review

Published:2020-04-28 Issue:1 Volume:54 Page:16-21
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Vaes Laurien¹,Tiller George E.²,Pérez Belén³,Boyer Suzanne W.⁴,Berry Susan A.⁵,Sarafoglou Kyriakie⁶,Morava Eva⁷^ORCID

Affiliation:

1. Faculty of MedicineKU Leuven Leuven Belgium

2. Department of GeneticsKaiser Permanente Los Angeles California USA

3. Center of Molecular Biology‐Severo OchoaUniversity Autonomous of Madrid, La Paz Institute for Health Research, Center for Biomedical Research on Rare Diseases Madrid Spain

4. Department of Clinical GenomicsMayo Clinic Rochester Minnesota USA

5. Division of Genetics and Metabolism, Department of PediatricsUniversity of Minnesota Medical School Minneapolis Minnesota USA

6. Department of PediatricsUniversity of Minnesota Masonic Children's Hospital Minneapolis Minnesota USA

7. Department of Clinical Genomics, and Department of Laboratory Medicine and PathologyMayo Clinic Rochester Minnesota USA

Funder

National Institutes of Health

National Center for Advancing Translational Sciences

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12122

Reference38 articles.

1. Congenital disorders of glycosylation (CDG): Quo vadis?

2. The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

3. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

4. Congenital Disorders of Glycosylation: A Review

5. Sparks S. E.andD. M.Krasnewich(1993). PMM2‐CDG (CDG‐Ia).GeneReviews([R]).M. P.Adam H. H.Ardinger R. A.Pagonet al.Seattle WA University of Washington Seattle University of Washington.

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2. Revisiting the immunopathology of congenital disorders of glycosylation: an updated review;Frontiers in Immunology;2024-03-14

3. Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives;Journal of Rare Diseases;2022-12-07

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