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  • Title: A novel nonsense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a Pakistani family.
    Author: Wasif N, Ahmad W.
    Journal: Pediatr Dermatol; 2013; 30(1):139-41. PubMed ID: 22300369.
    Abstract:
    Congenital anonychia is an inherited autosomal recessive disorder characterized by complete absence of fingernails or toenails, or both. In the present study, we have described a consanguineous Pakistani family having a family member affected with congenital anonychia. Genotyping using polymorphic microsatellite markers showed linkage of the family to gene RSPO4 encoding R-spondin and mapped on human chromosome 20p13. Deoxyribonucleic acid sequence analysis of the gene identified a novel nonsense mutation (c.18C>A; p.Cys6X) in the affected family member.
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