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Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations

✍ Scribed by JM Drijvers; DJ Lefeber; SA De Munnik; R Pfundt; N Van De Leeuw; C Marcelis; C Thiel; C Koerner; RA Wevers; E Morava


Book ID
110888959
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
539 KB
Volume
77
Category
Article
ISSN
0009-9163

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## Abstract Congenital disorders of glycosylation (CDG) are a group of metabolic disorders with multisystemic involvement characterized by abnormalities in the synthesis of N‐linked oligosaccharides. The most common form, CDG‐Ia, resulting from mutations in the gene encoding the enzyme phosphomanno