儿童巴尔得-别德尔综合征2个家系研究—

翟亦晖徐虹沈茜吴冰冰

Novel mutations in the BBS12 gene of two Chinese Bardet-Biedl syndrome pedigrees

中华肾脏病杂志 . 2018, (8): 592 -600 . DOI: 10.3760/cma.j.issn.1001-7097.2018.08.006