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Phenotype matters

Nature Genetics volume 36, pages 323–324 (2004)Cite this article

The association of diseases with genes is complex, even among mendelian disorders. A new study shows that mutations in the gene encoding filamin B (FLNB) cause four distinct disorders of human skeletal development.

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Figure 1: The overall similarity of the various disorders associated with mutations in FLNA or in FLNB and of disorders with unknown genetic etiology based on information from several sources4,5,6.

References

  1. Krakow, D. et al. Nat. Genet. 36, 405–410 (2004).

    Article  CAS  Google Scholar 

  2. Robertson, S.P. et al. Nat. Genet. 33, 487–491 (2003).

    Article  CAS  Google Scholar 

  3. Robin, N.H. & Biesecker, L.G. Genet. Med. 3, 290–293 (2001).

    Article  CAS  Google Scholar 

  4. Taybi, H. & Lachman, R.S. Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias (Mosby, St. Louis, 1996).

    Google Scholar 

  5. Jones, K.L. Smith's Recognizable Patterns of Human Malformation (W B Saunders, Philadelphia, 1997).

    Google Scholar 

  6. Spranger, J.W., Brill, P.W. & Poznanski, A.K. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development. (Oxford University Press, Oxford, 2002).

    Google Scholar 

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  1. National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

    Leslie G Biesecker

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  1. Leslie G Biesecker
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Biesecker, L. Phenotype matters. Nat Genet 36, 323–324 (2004). https://doi.org/10.1038/ng0404-323

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