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A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke-Ollendorff syndrome

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References

  1. Melnick JC. Osteopathia condensans disseminata (osteopoikilosis); study of a family of 4 generations. Am J Roentgenol Radium Ther Nucl Med 1959, 82: 229–38.

    PubMed  CAS  Google Scholar 

  2. Stieda A. Uber umschriebene Knochenverdichtungen im Bereich der Substantia spongiosa in Roentgenbilde. Beitr Klin Chir 1905, 45: 700–3.

    Google Scholar 

  3. Lagier R, Mbakop A, Bigler A. Osteopoikilosis: a radiological and pathological study. Skeletal Radiol 1984, 11: 161–8.

    Article  PubMed  CAS  Google Scholar 

  4. Buschke A, Ollendorff H. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Derm Wschr 1928, 86: 257–62.

    Google Scholar 

  5. Ehrig T, Cockerell CJ. Buschke-Ollendorff syndrome: report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease. J Am Acad Dermatol 2003, 49: 1163–6.

    Article  PubMed  Google Scholar 

  6. Berlin R, Hedensio B, Lilja B, Linder L. Osteopoikilosis — a clinical and genetic study. Acta Med Scand 1967, 181: 305–14.

    Article  PubMed  CAS  Google Scholar 

  7. Hellemans J, Preobrazhenska O, Willaert A, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet 2004, 36: 1213–8.

    Article  PubMed  CAS  Google Scholar 

  8. Hellemans J, Debeer P, Wright M, et al. Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat 2006, 27: 290.

    Article  PubMed  Google Scholar 

  9. Orkin SH, Kazazian HH Jr, Antonarakis SE, et al. Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature 1982, 296: 627–31.

    Article  PubMed  CAS  Google Scholar 

  10. Treisman R, Proudfoot NJ, Shander M, Maniatis T. A single-base change at a splice site in a β0-thalassemic gene causes abnormal RNA splicing. Cell 1982, 29: 903–11.

    Article  PubMed  CAS  Google Scholar 

  11. Lin F, Morrison JM, Wu W, Worman HJ. MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-β signaling. Hum Mol Genet 2005, 14: 437–45.

    Article  PubMed  CAS  Google Scholar 

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Kobayashi, H., Kasahara, M., Hino, M. et al. A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke-Ollendorff syndrome. J Endocrinol Invest 30, 263–265 (2007). https://doi.org/10.1007/BF03347437

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