diabetes mellitus

Haploinsufficiency of the NF1 gene is associated with protection against diabetes
Roope A Kallionpää, Sirkku Peltonen, Jussi Leppävirta, Minna Pöyhönen, Kari Auranen, Hannu Järveläinen, Juha Peltonen

Journal of Medical Genetics Jun 2021, 58 (6) 378-384; DOI: 10.1136/jmedgenet-2020-107062
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome
Kun Hu, Malgorzata Zatyka, Dewi Astuti, Nicola Beer, Renuka P Dias, Archana Kulkarni, John Ainsworth, Benjamin Wright, Anna Majander, Patrick Yu-Wai-Man, Denise Williams, Timothy Barrett

Journal of Medical Genetics May 2021, jmedgenet-2020-107257; DOI: 10.1136/jmedgenet-2020-107257
Emerging roles of rare and low-frequency genetic variants in type 1 diabetes mellitus
Haipeng Pang, Ying Xia, Shuoming Luo, Gan Huang, Xia Li, Zhiguo Xie, Zhiguang Zhou

Journal of Medical Genetics May 2021, 58 (5) 289-296; DOI: 10.1136/jmedgenet-2020-107350
A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant
Nivedita Patni, Sarah Hatab, Chao Xing, Zhengyang Zhou, Claudia Quittner, Abhimanyu Garg

Journal of Medical Genetics Jun 2020, 57 (6) 422-426; DOI: 10.1136/jmedgenet-2019-106395

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