Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy-Reference-Cited by-同舟云学术

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy

Published:2010-09-22 Issue:2 Volume:19 Page:131-137
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Arrigoni Francesca I,Matarin Mar,Thompson Pamela J,Michaelides Michel,McClements Michelle E,Redmond Elizabeth,Clarke Lindsey,Ellins Elizabeth,Mohamed Saifullah,Pavord Ian,Hunt David M,Moore Anthony T,Halcox Julian,Sisodiya Sanjay M

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010147.pdf

Reference42 articles.

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2. Idrees F, Bloch-Zupan A, Free SL et al: A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes. Am J Med Genet B Neuropsychiatr Genet 2006; 141B: 184–191.

3. Sisodiya SM, Ragge NK, Cavalleri GL et al: Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia 2006; 47: 534–542.

4. Henderson RA, Williamson K, Cumming S et al: Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. Eur J Hum Genet 2007; 15: 898–901.

5. Zhang Q, Zulfiqar F, Xiao X et al: Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. Hum Genet 2007; 122: 293–299.

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