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Article

Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.

The Journal of investigative dermatology - 1 Apr 2008

Ishii Yoshiyuki, Wajid Muhammad, Bazzi Hisham, Fantauzzo Katherine A, Barber Alison G, Blaydon Diana C, Nam Ju-Suk, Yoon Jeong K, Kelsell David Peter, Christiano Angela M

Abstract excerpt

Recently, we reported that mutations in the R-spondin 4 (RSPO4) gene underlie inherited anonychia/hyponychia. Here, we studied five consanguineous Pakistani families with recessive inheritance of a combination of anonychia and hyponychia. Homozygous mutations were identified in the RSPO4 gene in...

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Source

Identifiers

PMID: 17805348
DOI: 10.1038/sj.jid.5701078

Genes

RSPO4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17805348-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.PMID 17805348Read ↗

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.Semantic proximity Read ↗

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.Semantic proximity Read ↗

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.Semantic proximity Read ↗

A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family.Semantic proximity Read ↗

Genetics of human isolated hereditary nail disorders.Semantic proximity Read ↗

The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects.Semantic proximity Read ↗

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