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anonychia
Saturday 11 November 2006
Pathology
RSPO4 germline mutations in inherited anonychia and hyponychia congenita (MIM.206800)
References
Blaydon DC, Ishii Y, O’toole EA, Unsworth HC, Teh MT, Ruschendorf F, Sinclair C, Hopsu-Havu VK, Tidman N, Moss C, Watson R, de Berker D, Wajid M, Christiano AM, Kelsell DP. The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet. 2006 Nov;38(11):1245-7. PMID: 17041604
