References
Melnick JC. Osteopathia condensans disseminata (osteopoikilosis); study of a family of 4 generations. Am J Roentgenol Radium Ther Nucl Med 1959, 82: 229–38.
Stieda A. Uber umschriebene Knochenverdichtungen im Bereich der Substantia spongiosa in Roentgenbilde. Beitr Klin Chir 1905, 45: 700–3.
Lagier R, Mbakop A, Bigler A. Osteopoikilosis: a radiological and pathological study. Skeletal Radiol 1984, 11: 161–8.
Buschke A, Ollendorff H. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Derm Wschr 1928, 86: 257–62.
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.
Berlin R, Hedensio B, Lilja B, Linder L. Osteopoikilosis — a clinical and genetic study. Acta Med Scand 1967, 181: 305–14.
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.
Hellemans J, Debeer P, Wright M, et al. Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat 2006, 27: 290.
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.
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.
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.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF03347437