Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta
CNNM4 突变会导致 Jalili 综合征,包括常染色体隐性遗传的视锥细胞-视杆细胞营养不良和牙釉质形成不全症
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2009.01.009
David A Parry, Alan J Mighell, Walid El-Sayed, Roger C Shore, Ismail K Jalili, Hélène Dollfus, Agnes Bloch-Zupan, Roman Carlos, Ian M Carr, Louise M Downey, Katharine M Blain, David C Mansfield, Mehdi Shahrabi, Mansour Heidari, Parissa Aref, Mohsen Abbasi, Michel Michaelides, Anthony T Moore, Jennif