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Article

Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.

The Journal of investigative dermatology - 1 May 2017

Hsu Chao-Kai, Romano Maria Teresa, Nanda Arti, Rashidghamat Ellie, Lee John Y W, Huang Hsin-Yu, Songsantiphap Chankiat, Lee Julia Yu-Yun, Al-Ajmi Hejab, Betz Regina C, Simpson Michael A, McGrath John A, Tziotzios Christos

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Source

Identifiers

PMID: 28087452
DOI: 10.1016/j.jid.2016.12.015

Genes

PADI3
RSPO4

Provenance

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Related research

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Research trail→

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Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.PMID 28087452Read ↗

Mutations in R-spondin 4 (RSPO4) underlie 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 ↗

Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body.Semantic proximity Read ↗

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

Congenital hyponychia without RSPO4 mutation.Semantic proximity Read ↗

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