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Primary osteomyelofibrosis and an XX-male genotype.
Schanz J, Haase D, Steuernagel P, Shirneshan K, Bäsecke J. Schanz J, et al. Among authors: steuernagel p. Eur J Haematol. 2015 Sep;95(3):254-6. doi: 10.1111/ejh.12555. Epub 2015 May 5. Eur J Haematol. 2015. PMID: 25808090
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Hehr U, Pineda-Alvarez DE, Uyanik G, Hu P, Zhou N, Hehr A, Schell-Apacik C, Altus C, Daumer-Haas C, Meiner A, Steuernagel P, Roessler E, Winkler J, Muenke M. Hehr U, et al. Among authors: steuernagel p. Hum Genet. 2010 Mar;127(5):555-61. doi: 10.1007/s00439-010-0797-4. Epub 2010 Feb 16. Hum Genet. 2010. PMID: 20157829 Free PMC article.