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Bibliography
Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitilia I, McIntosh I, Francomano CA. Achondroplasia is defined by recurrent G830R mutations of FGFR3. Am J Hum Genet 1995; 56: 368–73
Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: a multicentre patient review. J Med Genet 1998; 35: 705–12
Langer LO Jr, Baumann PA, Gorlin RJ. Achondroplasia. AJR Am J Roentgenol 1967; 100: 12–26
Nicoletti B, Kopits SE, Ascani E, McKusick VA (eds.). Human achondroplasia: a multidisciplinary approach. Plenum Press, New York, 1988
Oberklaid F, Danks DM, Jensen F, Stace L, Rosshandler S. Achondroplasia and hyperchondroplasia: comments on frequency, mutation rate, and radiological features in skull and spine. J Med Genet 1979; 16: 140–6
Sommer A, Young-Wee T, Frye T. Achondroplasia-hypochondroplasia complex. Am J Med Genet 1987; 26: 949–57
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(2005). Achondroplasia. In: Abnormal Skeletal Phenotypes. Springer, Berlin, Heidelberg. https://doi.org/10.1007/3-540-30361-8_13
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DOI: https://doi.org/10.1007/3-540-30361-8_13
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