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Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
Wood, Kirsten A., Zambrano, Regina M., Cheek, Bradley J., Arcement, Christopher, Haymon, Marie, Steinkampf, Jessica, Sampath, Srirangan, Hyland, James C., Lacassie, YvesVolume:
5
Language:
english
Journal:
Clinical Case Reports
DOI:
10.1002/ccr3.835
Date:
April, 2017
File:
PDF, 1.27 MB
english, 2017