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Blaydon DC Ishii Y O'Toole EA Unsworth HC Teh MT Rüschendorf F Sinclair C Hopsu-Havu VK Tidman N Moss C Watson R de Berker D Wajid M Christiano AM Kelsell DP 《Nature genetics》2006,38(11):1245-1247
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 families. Rspo4 expression was specifically localized to developing mouse nail mesenchyme at embryonic day 15.5, suggesting a crucial role in nail morphogenesis. 相似文献