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publicationName American journal of medical genetics. Part A
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bibliographicCitation Coman D, Bostock D, Hunter M, Kannu P, Irving M, Mayne V, Fietz M, Jaeken J, Savarirayan R. Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. Am J Med Genet A. 2008 Feb 01;146A(3):389–92. doi: 10.1002/ajmg.a.32119. PMID: 18203160.
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title Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia
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