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Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
Jamsheer A, Sowińska-Seidler A, Olech EM, Socha M, Kozłowski K, Pyrkosz A, Trzeciak T, Materna-Kiryluk A, Latos-Bieleńska A. Jamsheer A, et al. Among authors: kozlowski k. J Hum Genet. 2016 May;61(5):457-61. doi: 10.1038/jhg.2015.172. Epub 2016 Jan 14. J Hum Genet. 2016. PMID: 26763883
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: kozlowski k. 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
Czech dysplasia metatarsal type: another type II collagen disorder.
Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR. Hoornaert KP, et al. Among authors: kozlowski k. Eur J Hum Genet. 2007 Dec;15(12):1269-75. doi: 10.1038/sj.ejhg.5201913. Epub 2007 Aug 29. Eur J Hum Genet. 2007. PMID: 17726487
3-M syndrome in two sisters.
Marik I, Marikova O, Kuklik M, Zemkova D, Kozlowski K. Marik I, et al. Among authors: kozlowski k. J Paediatr Child Health. 2002 Aug;38(4):419-22. doi: 10.1046/j.1440-1754.2002.00026.x. J Paediatr Child Health. 2002. PMID: 12174011
Czech dysplasia metatarsal type.
Kozlowski K, Marik I, Marikova O, Zemkova D, Kuklik M. Kozlowski K, et al. Am J Med Genet A. 2004 Aug 15;129A(1):87-91. doi: 10.1002/ajmg.a.30132. Am J Med Genet A. 2004. PMID: 15266623
585 results