Home LiteratureArticle Details
PMID: 9222245 Published · ppublish English

Dominant inheritance of optic pits.

American journal of ophthalmology ·Vol. 124 ·No. 1 ·1997-08-04

Stefko S T, Campochiaro P, Wang P, Li Y, Zhu D, Traboulsi E I

Abstract

To report the familial occurrence of optic pits and to screen the candidate PAX2 gene for mutations in this family.,Clinical family study. Standard mutation analysis of the PAX2 exons.,Unilateral optic pits were present in three generations of one family and were inherited in an autosomal dominant fashion. No mutations in the PAX2 gene, responsible for the renal-optic coloboma syndrome, were found.,Unilateral optic pits may be inherited in an autosomal dominant fashion and not in association with mutation in the PAX2 gene.

Article Info
Journal
American journal of ophthalmology
Abbr.
Am J Ophthalmol
Published
1997-08-04
Indexed
1997-08-04
Updated
2009-11-19
Language
English
Country/Region
United States
NLM ID
0370500
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]