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Confirmatory linkage of hypochondroplasia to chromosome arm 4p.
Hecht JT, Herrera CA, Greenhaw GA, Francomano CA, Bellus GA, Blanton SH. Hecht JT, et al. Am J Med Genet. 1995 Jul 3;57(3):505-6. doi: 10.1002/ajmg.1320570333. Am J Med Genet. 1995. PMID: 7677163 No abstract available.
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Bellus GA, et al. Am J Hum Genet. 1995 Feb;56(2):368-73. Am J Hum Genet. 1995. PMID: 7847369 Free PMC article.