日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

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

N-糖基化障碍中的一种新表型:由ALG9致病变异引起的Gillessen-Kaesbach-Nishimura骨骼发育不良

Tham, Emma; Eklund, Erik A; Hammarsjö, Anna; Bengtson, Per; Geiberger, Stefan; Lagerstedt-Robinson, Kristina; Malmgren, Helena; Nilsson, Daniel; Grigelionis, Gintautas; Conner, Peter; Lindgren, Peter; Lindstrand, Anna; Wedell, Anna; Albåge, Margareta; Zielinska, Katarzyna; Nordgren, Ann; Papadogiannakis, Nikos; Nishimura, Gen; Grigelioniene, Giedre

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

FAM111A基因突变会导致甲状旁腺功能减退和骨骼发育障碍。

Unger, Sheila; Górna, Maria W; Le Béchec, Antony; Do Vale-Pereira, Sonia; Bedeschi, Maria Francesca; Geiberger, Stefan; Grigelioniene, Giedre; Horemuzova, Eva; Lalatta, Faustina; Lausch, Ekkehart; Magnani, Cinzia; Nampoothiri, Sheela; Nishimura, Gen; Petrella, Duccio; Rojas-Ringeling, Francisca; Utsunomiya, Akari; Zabel, Bernhard; Pradervand, Sylvain; Harshman, Keith; Campos-Xavier, Belinda; Bonafé, Luisa; Superti-Furga, Giulio; Stevenson, Brian; Superti-Furga, Andrea