Response to comments on: Diagnosis of Kearns-Sayre syndrome requires genetic confirmation.
作者信息
Verghese Shishir, Manayath George J, Pawar Neelam, Chandrakanth Prithvi, Shah Virna, Meenakshi R, Narendran Venkatapathy
机构信息
Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Civil Aerodrome Post, Peelemedu, Coimbatore, Tamil Nadu, India.
出版信息
Indian J Ophthalmol. 2023 Jan;71(1):318-319. doi: 10.4103/IJO.IJO_3122_22.
Abstract
摘要
相似文献
1
Response to comments on: Diagnosis of Kearns-Sayre syndrome requires genetic confirmation.对《凯-塞尔综合征的诊断需要基因确认》评论的回应
Indian J Ophthalmol. 2023 Jan;71(1):318-319. doi: 10.4103/IJO.IJO_3122_22.
2
Diagnosing Kearns-Sayre Syndrome Requires Genetic Confirmation.诊断卡恩斯-塞尔综合征需要基因确认。
Chin Med J (Engl). 2016 Sep 20;129(18):2267-8. doi: 10.4103/0366-6999.189913.
3
Diagnosis of Kearns-Sayre syndrome requires genetic confirmation.卡恩斯-塞尔综合征的诊断需要基因确认。
Indian J Ophthalmol. 2023 Jan;71(1):317-318. doi: 10.4103/ijo.IJO_2179_22.
4
Diagnosis of Kearns-Sayre syndrome requires genetic confirmation.卡恩斯-塞尔综合征的诊断需要基因确认。
Indian J Ophthalmol. 2023 Mar;71(3):1056. doi: 10.4103/ijo.IJO_1720_22.
5
Diagnosis of Kearns-Sayre Syndrome Requires Comprehensive Work-up.凯-塞尔综合征的诊断需要全面的检查。
Chin Med J (Engl). 2016 Oct 20;129(20):2518-2519. doi: 10.4103/0366-6999.191835.
6
A novel mitochondrial DNA deletion in a Chinese girl with Kearns-Sayre syndrome.一名患有卡恩斯-塞尔综合征的中国女孩身上发现的一种新型线粒体DNA缺失。
Hong Kong Med J. 2009 Oct;15(5):374-7.
7
Corneal decompensation in a boy with Kearns-Sayre syndrome.
Ophthalmic Genet. 2002 Dec;23(4):247-51. doi: 10.1076/opge.23.4.247.13882.
8
Kearns Sayre syndrome initially presenting as hypomelanosis of Ito.
Arch Dis Child. 1999 Sep;81(3):280-1.
9
The clinical diagnosis and molecular genetics of kearns-sayre syndrome: a complex mitochondrial encephalomyopathy.
Pediatr Endocrinol Rev. 2006;4(2):117-37.
10
[The Kearns-Sayre syndrome].
Rev Otoneuroophtalmol. 1984 Mar-Apr;56(2):117-23.
本文引用的文献
1
Potpourri of retinopathies in rare eye disease - A case series.多种视网膜病变的罕见眼病病例系列报告。
Indian J Ophthalmol. 2022 Jul;70(7):2605-2609. doi: 10.4103/ijo.IJO_3002_21.
2
Kearns-Sayre syndrome: a case series of 35 adults and children.卡恩斯-赛尔综合征：35 例成人和儿童的病例系列。
Int J Gen Med. 2014 Jul 3;7:325-32. doi: 10.2147/IJGM.S65560. eCollection 2014.
3
CPEO and KSS differ in the percentage and location of the mtDNA deletion.慢性进行性眼外肌麻痹（CPEO）和克尔恩-塞尔综合征（KSS）在线粒体DNA缺失的百分比和位置上有所不同。
Mitochondrion. 2009 Sep;9(5):314-7. doi: 10.1016/j.mito.2009.04.005. Epub 2009 May 4.
4
Autosomal dominant Kearns-Sayre syndrome.常染色体显性遗传性卡恩斯-塞尔综合征
Ophthalmology. 1980 Feb;87(2):99-108. doi: 10.1016/s0161-6420(80)35262-7.
5
Kearns-Sayre syndrome.卡恩斯-塞尔综合征
Birth Defects Orig Artic Ser. 1982;18(6):263-8.
6
Kearns-Sayre syndrome in twins: lethal dominant mutation or acquired disease?
Neurology. 1988 Sep;38(9):1399-402. doi: 10.1212/wnl.38.9.1399.
7
Deletions of mitochondrial DNA in Kearns-Sayre syndrome.卡恩斯-塞尔综合征中线粒体DNA的缺失。
Neurology. 1988 Sep;38(9):1339-46. doi: 10.1212/wnl.38.9.1339.
Zotero 插件