Gene: [11p13/PAX6] paired box homeotic gene 6 (oculorhombin); aniridia, type II (Wilms' tumor-linked); keratitis, hereditary (MIM:148190); [AN2 ]


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."

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

KEY

eye, neu, ont, trc

CLA

coding, basic

LOC

11 p13

MIM

MIM: 106210

SYN

AN2

鸯铗痂蝈 蜞赕:

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  • Gene: [02p25/ACP1] acid phosphatase 1, soluble;
  • Gene: [20p112/PAX1] paired box homeotic gene 1;
  • Pax-6 沐