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Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Krakow D, et al. Among authors: lachman rs. Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19. Am J Hum Genet. 2009. PMID: 19232556 Free PMC article.
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Krakow D, Cohn DH, Wilcox WR, Noh GJ, Raffel LJ, Sarukhanov A, Ivanova MH, Danielpour M, Grange DK, Elliott AM, Bernstein JA, Rimoin DL, Merrill AE, Lachman RS. Krakow D, et al. Among authors: lachman rs. Am J Med Genet A. 2016 Oct;170(10):2652-61. doi: 10.1002/ajmg.a.37772. Epub 2016 May 30. Am J Med Genet A. 2016. PMID: 27240702 Free PMC article.
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P. Elliott AM, et al. Among authors: lachman rs. Am J Med Genet. 2002 Apr 22;109(2):139-48. doi: 10.1002/ajmg.10324. Am J Med Genet. 2002. PMID: 11977163
The skeletal dysplasias: clinical-molecular correlations.
Rimoin DL, Cohn D, Krakow D, Wilcox W, Lachman RS, Alanay Y. Rimoin DL, et al. Among authors: lachman rs. Ann N Y Acad Sci. 2007 Nov;1117:302-9. doi: 10.1196/annals.1402.072. Ann N Y Acad Sci. 2007. PMID: 18056050 Review.
281 results