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

The British journal of dermatology - 1 Oct 2007

Seitz C S, van Steensel M, Frank J, Senderek J, Zerres K, Hamm H, Bergmann C

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17596144
DOI: 10.1111/j.1365-2133.2007.08059.x

Genes

RSPO4

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Wnt signalling ligand RSPO4, causing inherited anonychia, is not mutated in a patient with congenital nail hypoplasia/aplasia with underlying skeletal defects.PMID 17596144Read ↗

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

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

Mutations in R-spondin 4 (RSPO4) underlie inherited 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 ↗

Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.Semantic proximity Read ↗

Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations.Semantic proximity Read ↗

WNT pathways and upper limb anomalies.Semantic proximity Read ↗

Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia SyndromeSemantic proximity Read ↗

Congenital hyponychia without RSPO4 mutation.Semantic proximity Read ↗

RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.Semantic proximity Read ↗

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

HOXA1 mutations are not a common cause of Duane anomaly.Semantic proximity Read ↗

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