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hyponychia congenita

MIM.206800

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#