Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

BACKGROUND: Anonychia/hyponychia congenita is a rare autosomal recessive developmental disorder characterized by the absence (anonychia) or hypoplasia (hyponuchia) of finger- and/or toenails frequently caused by mutations in the R-spondin 4 (RSPO4) gene. METHODS: Three hypo/anonychia consanguineous...

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Hlavní autoři: Khan, Tahir Naeem, Klar, Joakim, Nawaz, Sadia, Jameel, Muhammad, Tariq, Muhammad, Malik, Naveed Altaf, Baig, Shahid M, Dahl, Niklas
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2012
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3532313/
https://ncbi.nlm.nih.gov/pubmed/23234511
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-120
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