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REFERENCES

  • 1
    Beighton P, Horan F 1977 A review of the osteopetroses. Postgrad Med J 53:507515.
  • 2
    Andersen PE, Bollerslev J 1987 Heterogeneity of autosomal dominant osteopetrosis. Radiology 164:223225.
  • 3
    Marks SC Jr 1989 Osteoclast biology: lessons from mammalian mutations. Am J Med Genet 34:4354.
  • 4
    Benichou OD, Benichou B, De Vernejoul MC 1998 Osteopetrosis as a model for studying bone resorption. Rev Rhum 65:778787.
  • 5
    Roth DE, Venta PJ, Tashian RE, Sly WS 1992 Molecular basis of human carbonic anhydrase II deficiency. Proc Natl Acad Sci USA 89:18041808.
  • 6
    Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A 2000 Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 25:343346.
  • 7
    Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, Hasan C, Bode U, Jentsch TJ, Kubisch C 2000 Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet 9:20592063.
  • 8
    Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ 2001 Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104:205215.
  • 9
    Cleiren E, Bénichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, Van Hul W 2001 Albers-Schönberg Disease (Autosomal Dominant Osteopetrosis, Type II) results from Mutations in the ClCN7 chloride channel gene. Hum Mol Genet 10:28612867.
  • 10
    Bollerslev J 1989 Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects. Endocr Rev 101:4567.
  • 11
    Bollerslev J, Andersen PE Jr 1988 Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone 91:713.
  • 12
    Albers-Schönberg HE 1904 Röntgenbilder einer seltenen Knockenerkrankung. Munch Med Wochenschr 51:365368.
  • 13
    Van Hul W, Bollerslev J, Gram J, Van Hul E, Wuyts W, Benichou O, Vanhoenacker F, Willems PJ 1997 Localization of a gene for autosomal dominant osteopetrosis Albers-Schonberg disease to chromosome 1p21. Am J Hum Genet 61:363369.
  • 14
    Dib C, Fauré S, Fizames C, Samson E, Drouot N, Vignal A, Millaseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J 1996 A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152154.
  • 15
    Lathrop GM, Lalouel JM 1984 Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460465.
  • 16
    Gong Y, Vikkula M, Boon L, Liu J, Beighton P, Ramesar R, Peltonen L, Somer H, Hirose T, Dallapiccola B, De Paepe A, Swoboda W, Zabel B, Superti-Furga A, Steinmann B, Brunner HG, Jans A, Boles RG, Adkins W, van den Boogaard MJ, Olsen BR, Warman ML 1996 Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12–13. Am J Hum Genet 59:146151.
  • 17
    Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Juppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML 2001 LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development. Cell 107:513523.
  • 18
    Little RD, Carulli JP, Del Mastro RG, Dupuis J, Osborne M, Folz C, Manning SP, Swain PM, Zhao SC, Eustace B, Lappe MM, Spitzer L, Zweier S, Braunschweiger K, Benchekroun Y, Hu X, Adair R, Chee L, FitzGerald MG, Tulig C, Caruso A, Tzellas N, Bawa A, Franklin B, McGuire S, Nogues X, Gong G, Allen KM, Anisowicz A, Morales AJ, Lomedico PT, Recker SM, Van Eerdewegh P, Recker RR, Johnson ML 2002 A Mutation in the LDL Receptor Related Protein 5 Gene Results in the Autosomal Dominant High Bone-Mass Trait. Am J Hum Genet 70:1119.
  • 19
    Johnson ML, Gong G, Kimberling W, Recker SM, Kimmel DB, Recker RB 1997 Linkage of a gene causing high bone mass to human chromosome 11q12–13. Am J Hum Genet 60:13261332.
  • 20
    Bollerslev J, Marks SC Jr, Pockwinse S, Kassem M, Brixen K, Steiniche T, Mosekilde L 1993 Ultrastructural investigations of bone resorptive cells in two types of autosomal dominant osteopetrosis. Bone 14:865869.