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radioulnar synostosis and amegakaryocytic thrombocytopenia

MIM.605432 7p15-p14.2

Friday 30 November 2007

Etiology

- HOXA11 germline mutation

References

- Horvat-Switzer RD, Thompson AA.HOXA11 mutation in amegakaryocytic thrombocytopenia with radio-ulnar synostosis syndrome inhibits megakaryocytic differentiation in vitro.Blood Cells Mol Dis. 2006 Jul-Aug;37(1):55-63. PMID: 16765069

- Thompson, A. A.; Woodruff, K.; Feig, S. A.; Nguyen, L. T.; Schanen, N. C. : Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome. Brit. J. Haemat. 113: 866-870, 2001. PubMed ID : 11442476

- Thompson, A. A.; Nguyen, L. T. : Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nature Genet. 26: 397-398, 2000. PubMed ID : 11101832

- Davis, A. P.; Witte, D. P.; Hsieh-Li, H. M.; Potter, S. S.; Capecchi, M. R. :
Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11. Nature 375: 791-795, 1995. PubMed ID : 7596412