anonychia
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