Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.
Drijvers
J M
JM
Lefeber
D J
DJ
de Munnik
S A
SA
Pfundt
R
R
van de Leeuw
N
N
Marcelis
C
C
Thiel
C
C
Koerner
C
C
Wevers
R A
RA
Morava
E
E
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
D008565:Membrane Proteins; C498467:ALG6 protein, human; D005964:Glucosyltransferases