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Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia
Authors:Coman D  Bostock D  Hunter M  Kannu P  Irving M  Mayne V  Fietz M  Jaeken J  Savarirayan R
Affiliation:Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia. david.coman@ghsv.org.au
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