Article
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
Nature genetics - 1 Nov 2006
Blaydon Diana C, Ishii Yoshiyuki, O'Toole Edel A, Unsworth Harriet C, Teh Muy-Teck, Rüschendorf Franz, Sinclair Claire, Hopsu-Havu Väinö K, Tidman Nicholas, Moss Celia, Watson Rosemarie, de Berker David, Wajid Muhammad, Christiano Angela M, Kelsell David P
Abstract excerpt
Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails. After determining linkage to chromosome 20p13, we identified homozygous or compound heterozygous mutations in the gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, in eight affected...
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