Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia.
Coman
D
D
Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia. david.coman@ghsv.org.au
Bostock
D
D
Hunter
M
M
Kannu
P
P
Irving
M
M
Mayne
V
V
Fietz
M
M
Jaeken
J
J
Savarirayan
R
R
D019943:Amino Acid Substitution / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D006031:Glycosylation; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000000981:diagnostic imaging / Q000235:genetics*; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics; D011859:Radiography
D017875:Phosphotransferases (Phosphomutases); C519582:phosphomannomutase 2, human