CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33168/fullpdf
Reference19 articles.
1. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family;Al-Baradie;Am J Hum Genet,2002
2. Localization of a gene for Duane retraction syndrome to chromosome 2q31;Appukuttan;Am J Hum Genet,1999
3. Association of familial Duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22;Cullen;Am J Med Genet,1993
4. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duan's retraction syndrome linked to the DURS2 locus;Demer;Invest Ophthalmol Vis Sci,2007
5. Duane's retraction syndrome;DeRespinis;Surv Ophthalmol,1993
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2. Two novel CHN1 variants identified in Duane retraction syndrome pedigrees disrupt development of ocular motor nerves in zebrafish;Journal of Human Genetics;2023-10-18
3. Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders;Orphanet Journal of Rare Diseases;2022-12-09
4. Chromosomal microarray analysis of patients with Duane retraction syndrome;International Ophthalmology;2018-11-26
5. CHN1 gene mutation analysis in patients with Duane retraction syndrome;Journal of American Association for Pediatric Ophthalmology and Strabismus;2017-12
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