Author:
Neuhaus C.,Betz C.,Bergmann C.,Bolz H.J.
Publisher
Springer Science and Business Media LLC
Reference15 articles.
1. Bamiou DE, Free SL, Sisodiya SM et al (2007) Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations. Arch Pediatr Adolesc Med 161:463–469
2. Bhatia S, Bengani H, Fish M et al (2013) Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. Am J Hum Genet 93:1126–1134
3. Dansault A, David G, Schwartz C et al (2007) Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities. Mol Vis 13:511–523
4. Glaser T, Jepeal L, Edwards JG et al (1994) PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 7:463–471
5. Gronskov K, Rosenberg T, Sand A et al (1999) Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. Eur J Hum Genet 7:274–286
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