Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4

@article{Murray1992LinkageOR,
  title={Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4},
  author={J. Murray and S. R. Bennett and A. Kwitek and K. Small and A. Schinzel and W. Alward and J. Weber and G. Bell and K. Buetow},
  journal={Nature Genetics},
  year={1992},
  volume={2},
  pages={46-49}
}
  • J. Murray, S. R. Bennett, +6 authors K. Buetow
  • Published 1992
  • Biology, Medicine
  • Nature Genetics
    • Rieger syndrome is an autosomal dominant disorder of morphogenesis in which previous cytogenetic arrangements have suggested chromosome 4 as a candidate chromosome. Using a group of highly polymorphic short tandem repeat polymorphisms (STRP), including a new tetranucleotide repeat for epidermal growth factor (EGF), significant linkage of Rieger syndrome to 4q markers has been identified. Tight linkage to EGF supports its role as a candidate gene, although a recombinant in an unaffected… CONTINUE READING
    View on Springer
    ncbi.nlm.nih.gov
    90 Citations
    Highly Influencial Citations
    1
    Background Citations
    10
    Methods Citations
    1
    Results Citations
    3
    90 Citations
    Citation Type

    Citation Type

    Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome.
    • 21
    Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO).
    • 88
    Identification of the Gene Involved in 4q25-Linked Axenfeld-Rieger Syndrome, PITX2
    Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25
    • 114
    • PDF
    Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31
    • 414
    Toward the complete genomic map and molecular pathology of human chromosome 4
    • 3
    Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.
    • 20
    • PDF
    A mutation in the RIEG1 gene associated with Peters’ anomaly
    • 147
    • PDF
    The human BARX2 gene: genomic structure, chromosomal localization, and single nucleotide polymorphisms.
    • 18
    Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene.
    • 63

    References

    SHOWING 1-10 OF 24 REFERENCES
    Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment.
    • 28
    • PDF
    The Rieger syndrome and a chromosome 13 deletion.
    • 30
    Rieger's syndrome with pericentric inversion of chromosome 6.
    • 18
    • PDF
    Genetic and physical maps of human chromosome 4 based on dinucleotide repeats.
    • 46
    Evidence that Rieger syndrome maps to 4q25 or 4q27.
    • 53
    • PDF
    Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome).
    • 26
    Deletions of different segments of the long arm of chromosome 4.
    • 91
    Interstitial deletion 4q and Rieger syndrome
    • 41
    Axenfeld-Rieger syndrome. A spectrum of developmental disorders.
    • 213
    Rieger's anomaly and glaucoma associated with partial trisomy 16q. Case report.
    • 24