Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
C2orf37 基因突变(编码核仁蛋白)可导致性腺功能低下、脱发、糖尿病、智力低下和锥体外系综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2008.10.018
Anas M Alazami, Amr Al-Saif, Abdulaziz Al-Semari, Saeed Bohlega, Soumaya Zlitni, Fatema Alzahrani, Prashant Bavi, Namik Kaya, Dilek Colak, Hanif Khalak, Andy Baltus, Borut Peterlin, Sumita Danda, Kailash P Bhatia, Susanne A Schneider, Nadia Sakati, Christopher A Walsh, Futwan Al-Mohanna, Brian Meyer