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Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.
Badura-Stronka M, Mróz D, Beighton P, Łukawiecki S, Wicher K, Latos-Bieleńska A, Kozłowski K. Badura-Stronka M, et al. Among authors: beighton p. Birth Defects Res A Clin Mol Teratol. 2015 Jun;103(6):567-72. doi: 10.1002/bdra.23354. Epub 2015 Mar 16. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 25776145
Retrospective diagnosis of chondrodysplasia punctata.
Kozlowski K, Basel D, Beighton P. Kozlowski K, et al. Among authors: beighton p. Australas Radiol. 2006 Feb;50(1):55-8. doi: 10.1111/j.1440-1673.2005.01531.x. Australas Radiol. 2006. PMID: 16499729
Broad clavicles in trisomy 8 mosaicism: a new sign.
Beighton P, Kozlowski KS, Gardner J, Smart R. Beighton P, et al. Skeletal Radiol. 1999 Jun;28(6):359-61. doi: 10.1007/s002560050532. Skeletal Radiol. 1999. PMID: 10450886
Lethal non-rhizomelic dysplasia epiphysealis punctata.
Kozlowski K, Godlonton J, Gardner J, Beighton P. Kozlowski K, et al. Among authors: beighton p. Clin Dysmorphol. 2002 Jul;11(3):203-8. doi: 10.1097/00019605-200207000-00011. Clin Dysmorphol. 2002. PMID: 12072802
Distal osteosclerosis.
Beighton P, Macrae M, Kozlowski K. Beighton P, et al. Clin Genet. 1980 Oct;18(4):298-304. doi: 10.1111/j.1399-0004.1980.tb00889.x. Clin Genet. 1980. PMID: 7438509
399 results