Article
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.
The Journal of investigative dermatology - 1 Apr 2008
Brüchle Nadina Ortiz, Frank Jorge, Frank Valeska, Senderek Jan, Akar Ahmet, Koc Erol, Rigopoulos Dimitris, van Steensel Maurice, Zerres Klaus, Bergmann Carsten
Abstract excerpt
Congenital anonychia is a rare autosomal-recessive disorder characterized by the absence of finger- and toenails. Recently, we and others identified the secreted Wnt signaling ligand R-spondin 4 (RSPO4) as the first gene known to be responsible for inherited anonychia. R-spondins are secreted proteins that activate the Wnt/beta-catenin signaling pathway. This puts anonychia on the growing list of congenital...
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