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9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (7)
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Display all abstracts in classification 9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia
Search within classification 9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia54835 A review of the clinical and genetic aspects of aniridia
Lee HJ; Colby KA
Seminars in Ophthalmology 2013; 28: 306-312
54540 Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population
Millá E; Mañ,é B; Duch S; Hernan I; Borrà,s E; Planas E; Dias Mde S; Carballo M; Gamundi MJ,
Molecular Vision 2013; 19: 1707-1722
54666 A Novel CYP1B1 Mutation with Congenital Glaucoma and Total Aniridia
Alzuhairy S; Abu-Amero KK; Al-Shahwan S; Edward DP
Ophthalmic Genetics 2015; 36: 89-91
54549 Three cases with unusual ophthalmic phenotypes of congenital aniridia
Lee NY; Lee YE; Mok J; Kim M; Park SH
Canadian Journal of Ophthalmology 2013; 48: 340-342
54642 PIK3R1 mutations in SHORT syndrome
Schroeder C; Riess A; Bonin M; Bauer P; Riess O; Dö,bler-Neumann M; Wieser S; Moog U; Tzschach A
Clinical Genetics 2014; 86: 292-294
54846 Cataract surgery for tilted lens in peters' anomaly type 2
Nishide T; Nakanishi M; Hayakawa N; Kimura I; Mizuki N
Case Reports in Ophthalmology 2013; 4: 134-137
54705 A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1
Reis LM; Tyler RC; Zori R; Burgess J; Mueller J; Semina EV
Ophthalmic Genetics 2015; 36: 92-94
