Published in
Wiley, The American Journal of Medical Genetics - Part A, 12(170), p. 3165-3171, 2016
DOI: 10.1002/ajmg.a.37875
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SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features
Journal article published in 2016 by
Patricia G. Wheeler,
Bobby G. Ng,
Laura Sanford,
V. Reid Sutton,
Dennis W. Bartholomew,
Matthew T. Pastore,
Michael J. Bamshad,
Martin Kircher 
,
Kati J. Buckingham,
Deborah A. Nickerson,
Jay Shendure,
Hudson H. Freeze
,
Kati J. Buckingham,
Deborah A. Nickerson,
Jay Shendure,
Hudson H. Freeze
This paper is available in a repository.
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