A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Tham, Emma, Eklund, Erik A, Hammarsjö, Anna, Bengtson, Per, Geiberger, Stefan, Lagerstedt-Robinson, Kristina, Malmgren, Helena, Nilsson, Daniel, Grigelionis, Gintautas, Conner, Peter, Lindgren, Peter,Мова:
english
Журнал:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2015.91
Date:
May, 2015
Файл:
PDF, 2.58 MB
english, 2015
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