Associated Papers
A novel variation in RSPO4 causing nonsyndromic congenital nail disorder-4 in a Chinese patient.
Zhang Q et al.
Frontiers in Pediatrics, 2025
Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.
Ishii Y et al.
The Journal of Investigative Dermatology, 2008
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.
Brüchle NO et al.
The Journal of Investigative Dermatology, 2008
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.
Bergmann C et al.
American Journal of Human Genetics, 2006
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