Bardet-Biedl综合征3个家系报告

[1] 丁静超, 王春林, 方燕兰, 等.儿童Bardet-Biedl综合征1例病例报告[J]. 中国循证儿科杂志, 2018,13(2):79-81.
[2] Forsythe E,Beales PL. Bardet-Biedl syndrome.[J]. Eur J Hum Genet, 2013,21(1):8-13.
[3] 李博红, 谢建生, 耿茜,等. BBS7基因突变致Bardet-Biedl综合征胎儿/引产儿的基因诊断:两例报道[J]. 中华围产医学杂志, 2020, 23(6):380-386.
[4] Khan SA, Muhammad N,Khan MA, et al. Genetics of human Bardet-Biedl syndrome, an updates.[J]. Clin Genet, 2016, 90(1):3-15.
[5] álvarez-Satta María, Castro-Sánchez S, Diana V. Bardet-Biedl Syndrome as a chaperonopathy:dissecting the major role of chaperonin-like BBS proteins (BBS6-BBS10-BBS12)[J]. Front Mol Biosci, 2017,31(4):55.
[6] Suspitsin EN, Imyanitov EN. Bardet-biedl Syndrome[J]. Mol Syndromol, 2016,7(2):62-71.
[7] 翟亦晖,徐虹,沈茜,等.儿童巴尔得-别德尔综合征2个家系研究-BBS12基因新突变[J]. 中华肾脏病杂志, 2018,34(8):592-600.
[8] Nicholas K.The oligogenic properties of Bardet-Biedl syndrome[J]. Hum Mol Genet, 2004,13(1):R65-R71.
[9] Fattahi Z, Rostami P, Najmabadi A, et al. Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome:genetic characterization and report of nine novel mutations in five BBS genes[J]. J Hum Genet, 2014,59(7):368-375.
[10] HjortshoJ TD, GroNskov K, Philp AR, et al. Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes[J]. Hum Mutat, 2010,31(4):429-436.
[11] 陈瑶, 李娟, 王剑, 等.Bardet-Biedl综合征1例报告并文献复习[J]. 临床儿科杂志, 2017,35(1):28-32.
[12] 林宝花, 杨晓庆, 沈彤. 以反复泌尿道感染发病的Bardet-Biedl综合征一例报道及文献复习[J]. 中国全科医学, 2018,21(2):130-133.
[13] 申金凤, 曹艳, 帅兰军, 等.以慢性肾功能衰竭为突出表现的新发致病突变非典型Bardet-Biedl综合征1例报告[J]. 中国临床医学, 2018,25(4):676-678.
[14] 陶天畅, 王蕾, 崇伟华,等.Bardet-Biedl综合征一例[J]. 中华实验眼科杂志, 2019,37(1):28-29.
[15] 修阳晖.Bardet-Biedl综合征致病基因筛查及发病机制研究[D]. 福州:福建医科大学,2018.
[16] Yang Z, Yang Y, Zhao P, et al. A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family[J]. Mol Vis, 2008, 14:2304-2308.
[17] Li Q,Zhang Y,Jia L, et al. A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome[J]. 中华医学杂志:英文版, 2014,127(24):4190-4196.
[18] 邢东军.Bardet-Biedl综合征和Usher综合征家系的基因诊断[D]. 温州:温州医科大学,2014.
[19] 陈皆春, 李成武, 高健生, 等.Bardet-Biedl综合征3例[J]. 中国中医眼科杂志, 2008,18(1):42-44.
[20] Yang L, Li Z, Mei M, et al. Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings withAlstrm syndrome[J]. BMC Medical Genetics, 2017,18(1):75.
[21] Tsang SH, Aycinena ARP, Sharma T. Ciliopathy:Bardet-Biedl syndrome[J]. Adv Exp Med Biol, 2018,1085:171-174.
[22] Yates CL, Monaghan KG,Copenheaver D, et al. Whole-exome sequencing on deceased fetuses with ultrasound anomalies:expanding our knowledge of genetic disease during fetal development[J]. Genet Med, 2017,19(10):1171-1178.
[23] Forsythe E, Kenny J, Bacchelli C, et al. Managing Bardet-Biedl Syndrome-now and in the future[J]. Front Pediatr, 2018,6:23.