| 概要 |
Gillessen-Kaesbach-Nishimura syndrome (GIKANIS) is a rare lethal autosomal recessive syndrome with skeletal dysplasia, polycystic kidneys and multiple malformations. It has been reported that mutations in ALG9 cause GIKANIS. ALG9 encodes alpha-1,2-mannosyltransferase, involved in the formation of the lipid-linked oligosaccharide precursor of N-glycosylation.
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| 著者 |
Tham E, Eklund EA, Hammarsjo A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albage M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G |
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| 著者 |
Kaymak D, Alpay V, Davutoglu EA, Elci O, Yigin AK, Tuysuz B, Madazli R |
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