title: Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.
authors.forename: J M
authors.initials: JM
authors.lastname: Drijvers
authors.forename: D J
authors.initials: DJ
authors.lastname: Lefeber
authors.forename: S A
authors.initials: SA
authors.lastname: de Munnik
authors.forename: R
authors.initials: R
authors.lastname: Pfundt
authors.forename: N
authors.initials: N
authors.lastname: van de Leeuw
authors.forename: C
authors.initials: C
authors.lastname: Marcelis
authors.forename: C
authors.initials: C
authors.lastname: Thiel
authors.forename: C
authors.initials: C
authors.lastname: Koerner
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: E
authors.initials: E
authors.lastname: Morava
mesh_terms: D001848:Bone Diseases, Developmental / Q000150:complications* / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005964:Glucosyltransferases / Q000235:genetics*; D006031:Glycosylation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D011859:Radiography
chemical_list: D008565:Membrane Proteins; C498467:ALG6 protein, human; D005964:Glucosyltransferases