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Severe neonatal spondylometaphyseal dysplasia in two siblings.
Czarny-Ratajczak M, Chrzanowska K, Bieganski T, Sulko J, Baranska D, Kocyla-Karczmarewicz B, Kuszel L, Jakubowski L, Niedzielski K, Kozlowski K. Czarny-Ratajczak M, et al. Among authors: kozlowski k. Am J Med Genet A. 2009 Oct;149A(10):2166-72. doi: 10.1002/ajmg.a.33016. Am J Med Genet A. 2009. PMID: 19764033
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
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
Czarny-Ratajczak M, Lohiniva J, Rogala P, Kozlowski K, Perälä M, Carter L, Spector TD, Kolodziej L, Seppänen U, Glazar R, Królewski J, Latos-Bielenska A, Ala-Kokko L. Czarny-Ratajczak M, et al. Among authors: kozlowski k. Am J Hum Genet. 2001 Nov;69(5):969-80. doi: 10.1086/324023. Epub 2001 Sep 14. Am J Hum Genet. 2001. PMID: 11565064 Free PMC article.
A new form or a variant of SMD type A4.
Marik I, Hudakova O, Petrasova S, Kuszel L, Czarny-Ratajczak M, Kozlowski K. Marik I, et al. Among authors: kozlowski k. J Appl Genet. 2012 Aug;53(3):289-94. doi: 10.1007/s13353-012-0094-0. Epub 2012 Apr 24. J Appl Genet. 2012. PMID: 22528043 Free PMC article. No abstract available.
Three new patients with FATCO: fibular agenesis with ectrodactyly.
Bieganski T, Jamsheer A, Sowinska A, Baranska D, Niedzielski K, Kozlowski K, Czarny-Ratajczak M. Bieganski T, et al. Among authors: kozlowski k. Am J Med Genet A. 2012 Jul;158A(7):1542-50. doi: 10.1002/ajmg.a.35369. Epub 2012 May 24. Am J Med Genet A. 2012. PMID: 22628253
585 results