Syndromic Disorders
Author:
Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-030-30417-1_7
Reference134 articles.
1. Iannaccone A, Berdia J. Retinitis pigmentosa. Danbury: National Organization for Rare Disorder; 2017. Review No. 21.
2. Smith RJ, et al. Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet. 1994;50(1):32–8.
3. Iannaccone A, et al. Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. J Med Genet. 2003;40(11):e118.
4. Iannaccone A, et al. Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene. Adv Exp Med Biol. 2008;613:221–7.
5. Edwards A, et al. Visual acuity and visual field impairment in Usher syndrome. Arch Ophthalmol. 1998;116(2):165–8.
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