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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Integrated Genetic, Epigenetic, and Transcriptional Profiling Identifies Molecular Pathways in the Development of Laterally Spreading Tumors.
Hesson LB et al.
Molecular Cancer Research : Mcr, 2016
27671336 (PubMed )
Supplement: 15417786mcr160175-sup-165857_1_supp_3615939_cbj153.xlsx › WES_Synch_G1_SNV
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
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
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