Gene: [11p13/PAX6] paired box homeotic gene 6 (oculorhombin); aniridia, type II (Wilms' tumor-linked); keratitis, hereditary (MIM:148190); [AN2 ]
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HET |
This type of aniridia, which is linked with Chr 11 markers, can manifest itself either with Wilms' tumor (in WAGR syndrome) or without it. For more details, see GEM:11p13/WT1." |
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REF |
LOC,MAP "Davis LM &: Science, 241, (12 Aug), 840-842, 1988 LOC,MAP "Gessler M &: Science, 244, 1575-1578, 1989a LOC,MAP "Gessler M, Bruns: Genomics, 5, 43-55, 1989b LOC,MAP "Gessler M, Bruns: Genomics, 3, 117-123, 1988 EAG,MOU,MOD "Glaser M, Housman: CCG, 51, (HGM10), 1005, 1989 LOC,MAP "Glaser M &: CCG, 46, (HGM9), 620-621, 1987 LOC,MAP "Mannens &: CCG, 51, (HGM10), 1039, 1989 LOC,MAP "Mannens &: CCG, 46, (HGM9), 655, 1987 LOC,MAP "Moore JW &: Hum Genet, 72, 297-302, 1986 MUT "Pearce WG &: Can J Ophthalmol, 30, 131-137, 1995 IDN,LOC,CYG "Simola KO &: Hum Genet, 63, 158-161, 1983 EAG,MOU,MOD "van der Meer-de Jong R: Genomics, 7, 270-275, 1990 |
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KEY |
eye, neu, ont, trc |
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CLA |
coding, basic |
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LOC |
11 p13 |
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MIM |
MIM: 106210 |
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SYN |
AN2 |
