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
Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).
Khan TN et al.
Bmc Medical Genetics, 2012
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
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
Blaydon DC et al.
Nature Genetics, 2006
A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family.
Wasif N et al.
Pediatric Dermatology, 0
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