Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature
ADAMTS10 和 ADAMTS17 的纯合突变会导致晶状体近视、晶状体异位、青光眼、球形晶状体症和身材矮小
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2009.09.011
Jose Morales, Latifa Al-Sharif, Dania S Khalil, Jameela M A Shinwari, Prashant Bavi, Rahima A Al-Mahrouqi, Ali Al-Rajhi, Fowzan S Alkuraya, Brian F Meyer, Nada Al Tassan
