Characteristic dysmorphic features in congenital disorders of glycosylation type IIb
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
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. Usin...
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Full title
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb
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TN_cdi_proquest_miscellaneous_1976441791
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1976441791
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-017-0386-7
