A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

scientific article

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1086/318183
P3181OpenCitations bibliographic resource ID2443682
P932PMC publication ID1235270
P698PubMed publication ID11170889
P5875ResearchGate publication ID12159232

P50authorCharles C SearbyQ37381740
Jamie E CraigQ82048083
P2093author name stringS R Patil
V C Sheffield
K Kawase
D A Mackey
D Walton
A B Kanis
E M Stone
W L Alward
C C Searby
D Y Nishimura
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Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defectsQ22010514
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21Q24312705
Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucomaQ24534513
A second locus for Rieger syndrome maps to chromosome 13q14Q24675472
Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25Q24675534
Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomalyQ24678041
Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25Q24678473
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25Q28138412
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defectsQ28240060
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25Q28273225
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndromeQ28298470
Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular developmentQ28587111
The genetics of open-angle glaucoma: the story of GLC1A and myocilin.Q34057609
Identification of a gene that causes primary open angle glaucoma.Q34414141
Number of people with glaucoma worldwideQ37320324
The two-exon gene of the human forkhead transcription factor FREAC-2 (FKHL6) is located at 6p25.3.Q38331766
Analysis of myocilin mutations in 1703 glaucoma patients from five different populationsQ46636264
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalitiesQ48964218
Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?Q52191298
Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-telQ58005072
P433issue2
P407language of work or nameEnglishQ1860
P304page(s)364-72
P577publication date2001-02-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleA spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye
P478volume68

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