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

<p>Abstract</p> <p>Background</p> <p>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 <it>R-spondin 4</it> (<it>RSPO4</it>) gene.</p...

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Autors principals:	Khan Tahir, Klar Joakim, Nawaz Sadia, Jameel Muhammad, Tariq Muhammad, Malik Naveed, Baig Shahid M, Dahl Niklas
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2012-12-01
Col·lecció:	BMC Medical Genetics
Matèries:	Anonychia Hyponychia Mutation <it>RSPO4</it> gene Polymorphism
Accés en línia:	http://www.biomedcentral.com/1471-2350/13/120
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