ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene. Patients manifest with severe neurologic, cardiac, musculoskeletal and ophthalmic phenotype in combination with dysmorphic features, and almost half of them die before or during the neona...
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ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
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TN_cdi_doaj_primary_oai_doaj_org_article_85d2bf813d3540bd95e68e5c58264161
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_85d2bf813d3540bd95e68e5c58264161
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ISSN
1471-2415
E-ISSN
1471-2415
DOI
10.1186/s12886-021-02013-2
