A rare association of aniridia with conjunctival xerosis in two Indian siblings with PAX6 mutation.
作者信息
Gopinathan Nair Vidya, Rajkumar Sankaranarayanan, Vasavada Abhay Raghukant
机构信息
Department of Pediatric Ophthalmology, Iladevi Cataract and IOL Research Centre, Ahmedabad, Gujarat, India.
Department of Pediatric Ophthalmology, Iladevi Cataract and IOL Research Centre, Ahmedabad, Gujarat; Department of Ophthalmic Genetics, Aditya Jyot Foundation for Twinkling Little Eyes, Mumbai, Maharashtra, India.
出版信息
Indian J Ophthalmol. 2020 Nov;68(11):2635-2637. doi: 10.4103/ijo.IJO_2185_20.
Abstract
摘要
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本文引用的文献
1
Conjunctival xerosis caused by vitamin A deficiency.
Arch Dis Child. 2018 Sep;103(9):890. doi: 10.1136/archdischild-2017-313618. Epub 2017 Sep 22.
2
NMD: At the crossroads between translation termination and ribosome recycling.
Biochimie. 2015 Jul;114:2-9. doi: 10.1016/j.biochi.2014.10.027. Epub 2014 Nov 13.
3
Downstream genes of Pax6 revealed by comprehensive transcriptome profiling in the developing rat hindbrain.
BMC Dev Biol. 2010 Jan 18;10:6. doi: 10.1186/1471-213X-10-6.
4
[Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Oct;26(5):542-5. doi: 10.3760/cma.j.issn.1003-9406.2009.05.015.
5
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.
Clin Genet. 2006 Jun;69(6):459-70. doi: 10.1111/j.1399-0004.2006.00619.x.
6
PAX6 mutations: genotype-phenotype correlations.
BMC Genet. 2005 May 26;6:27. doi: 10.1186/1471-2156-6-27.
7
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.
Eur J Hum Genet. 2003 Feb;11(2):163-9. doi: 10.1038/sj.ejhg.5200940.
8
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
Eur J Hum Genet. 1999 Apr;7(3):274-86. doi: 10.1038/sj.ejhg.5200308.
9
Defects of neuronal migration and the pathogenesis of cortical malformations are associated with Small eye (Sey) in the mouse, a point mutation at the Pax-6-locus.
Acta Neuropathol. 1993;86(2):126-35. doi: 10.1007/BF00334879.
10
Monocular acuity norms for the Teller Acuity Cards between ages one month and four years.
Invest Ophthalmol Vis Sci. 1995 Mar;36(3):671-85.
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