The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
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Summary
FKHL7, encoding a forkhead transcription factor, is in close proximity to the breakpoint in the balanced translocation patient and is deleted in a second PCG patient with partial 6p monosomy, demonstrating that mutations in FKHL 7 cause a spectrum of glaucoma phenotypes.
- Type
- article
- Published
- 1998-06-01
- Cited by
- 463
- References
- 43
- OpenAlex
- https://openalex.org/W1529788780
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:34692231
Keywords
Breakpoint, Biology, Genetics, Positional cloning, Phenotype
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Cited by
- Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal recessive disorder
- FOXC1 Transcriptional Regulatory Activity Is Impaired by PBX1 in a Filamin A-Mediated Manner
- Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ Monosomy 9p23-Pter
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