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A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

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Description scientific article
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author: Ann Nordgren  Anna Lindstrand  Peter Conner  Emma Tham  Gen Nishimura  Daniel Nilsson  Giedre Grigelioniene 

Publication date May 13, 2015
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