CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference8 articles.
1. Localization of a gene for Duane retraction syndrome to chromosome 2q31;Appukuttan;Am. J. Hum. Genet.,1999
2. Two novel CHN1 mutations in 2 families with Duane retraction syndrome;Chan;Arch Ophthalmol Chic Ill 1960,2011
3. Duane's retraction syndrome;DeRespinis;Surv. Ophthalmol.,1993
4. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing;Gnirke;Nat. Biotechnol.,2009
5. Abducens nerve is present in patients with type 2 duane's retraction syndrome;Kim;Ophthalmology,2012
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3. Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome;Strabismus;2024-01-02
4. 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
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