A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Emma Tham(Karolinska University Hospital), Giedré Grigelioniené(Karolinska University Hospital), Peter Lindgren(Karolinska University Hospital), Gintautas Grigelionis(Karolinska Institutet), Gen Nishimura(Musashino University), Daniel Nilsson(Karolinska University Hospital), Nikos Papadogiannakis(Karolinska Institutet), Anna Hammarsjö(Karolinska University Hospital), Kristina Lagerstedt‐Robinson(Karolinska University Hospital), Margareta Albåge(Karolinska University Hospital), Stefan Geiberger(Karolinska Institutet), Erik A. Eklund(Lund University), Ann Nordgren(Karolinska University Hospital), Anna Lindstrand(Karolinska University Hospital), K Zielińska(Lund University), Helena Malmgren(Karolinska University Hospital), Per Bengtson(Lund University), Anna Wedell(Karolinska University Hospital), Peter Conner(Karolinska University Hospital)
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