The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects.
Seitz
C S
CS
van Steensel
M
M
Frank
J
J
Senderek
J
J
Zerres
K
K
Hamm
H
H
Bergmann
C
C
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
D019699:Thrombospondins; C516169:RSPO4 protein, human; D000098907:R-Spondins