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

• Main Authors: Khan Tahir (Author), Klar Joakim (Author), Nawaz Sadia (Author), Jameel Muhammad (Author), Tariq Muhammad (Author), Malik Naveed (Author), Baig Shahid M (Author), Dahl Niklas (Author)
• 格式: 图书
• 出版: BMC, 2012-12-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

<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-spon...