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A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.
Nat Genet. 1998 Jun;19(2):167-70. doi: 10.1038/527.
Nat Genet. 1998.
PMID: 9620774
Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).
Berry V, Yang Z, Addison PK, Francis PJ, Ionides A, Karan G, Jiang L, Lin W, Hu J, Yang R, Moore A, Zhang K, Bhattacharya SS.
Berry V, et al.
J Med Genet. 2004 Aug;41(8):e109. doi: 10.1136/jmg.2004.020289.
J Med Genet. 2004.
PMID: 15286169
Free PMC article.
No abstract available.
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Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
Verdin H, Sorokina EA, Meire F, Casteels I, de Ravel T, Semina EV, De Baere E.
Verdin H, et al.
Orphanet J Rare Dis. 2014 Feb 20;9:26. doi: 10.1186/1750-1172-9-26.
Orphanet J Rare Dis. 2014.
PMID: 24555714
Free PMC article.
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Identification of PITX3 mutations in individuals with various ocular developmental defects.
Zazo Seco C, Plaisancié J, Lupasco T, Michot C, Pechmeja J, Delanne J, Cottereau E, Ayuso C, Corton M, Calvas P, Ragge N, Chassaing N.
Zazo Seco C, et al.
Ophthalmic Genet. 2018 Jun;39(3):314-320. doi: 10.1080/13816810.2018.1430243. Epub 2018 Feb 6.
Ophthalmic Genet. 2018.
PMID: 29405783
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