| 1 | FGFR3, HCH
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| New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.
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| Song SH, Balce GC, Agashe MV, Lee H, Hong SJ, Park YE, Kim SG, Song HR.
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| Am J Med Genet A 158A(10):2456-62. doi: 10.1002/ajmg.a.35564. Epub 2012 Aug 17.
2012
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| 2 | FENS, FGFR3, HCH
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| Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
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| Leroy JG, Nuytinck L, Lambert J, Naeyaert JM, Mortier GR.
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| Am J Med Genet A 143(24):3144-9. 2007
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| 3 | FGFR3, ACH, HCH
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| Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
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| Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J.
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| Eur J Hum Genet 14(12):1240-7. Epub 2006 Aug 16. Erratum in: Eur J Hum Genet. 2006 Dec;14(12):1321. 2006
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| 4 | ACH, FGFR3, HCH
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| Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
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| Mortier G, Nuytinck L, Craen M, Renard JP, Leroy JG, de Paepe A.
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| J Med Genet 37(3):220-4. No abstract available. 2000
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| 5 | ACH, FGFR3, HCH
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| A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
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| Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA.
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| Nat Genet 10(3):357-9. 1995
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