ReviewJournal of human genetics2018
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.
Review in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 20 citations in OpenAlex.
- Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy.BMJ case reports · 2025Article
- A BioID-based approach uncovers the interactome of hexose-6-phosphate dehydrogenase in breast cancer cells and identifies anterior gradient protein 2 as an interacting partner.Cell & bioscience · 2025Article
- Review
- Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.World journal of clinical cases · 2022Article
- Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.Journal of medical genetics · 2022Article
- Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.Frontiers in pediatrics · 2021Article
- Targeting FcRn for immunomodulation: Benefits, risks, and practical considerations.The Journal of allergy and clinical immunology · 2020Review
- Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams.Neurogenetics · 2020Article
- Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.Journal of human genetics · 2019Article
- Defective mucin-type glycosylation on α-dystroglycan in COG-deficient cells increases its susceptibility to bacterial proteases.The Journal of biological chemistry · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients from two unrelated families. Using targeted exome sequencing, we identified another patient affected by this condition. This patient had increased serum trisialotransferrin levels. Importantly, a review of the features of all four patients revealed the recognizable clinical hallmarks of MOGS-CDG. The distinct dysmorphic features of this condition include long eyelashes, retrognathia, hirsutism, clenched overlapped fingers, hypoventilation, hepatomegaly, generalized edema, and immunodeficiency.
Indexed as
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.