title: The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects.
authors.forename: C S
authors.initials: CS
authors.lastname: Seitz
authors.forename: M
authors.initials: M
authors.lastname: van Steensel
authors.forename: J
authors.initials: J
authors.lastname: Frank
authors.forename: J
authors.initials: J
authors.lastname: Senderek
authors.forename: K
authors.initials: K
authors.lastname: Zerres
authors.forename: H
authors.initials: H
authors.lastname: Hamm
authors.forename: C
authors.initials: C
authors.lastname: Bergmann
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D009154:Mutation; D009264:Nails, Malformed / Q000235:genetics*; D015398:Signal Transduction; D019699:Thrombospondins / Q000235:genetics*; D050277:Toe Phalanges / Q000002:abnormalities*; D000098907:R-Spondins
chemical_list: D019699:Thrombospondins; C516169:RSPO4 protein, human; D000098907:R-Spondins