title: A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family.
authors: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 44520, Pakistan.
authors: M S
authors: MS
authors: Chishti
authors: N
authors: N
authors: Kausar
authors: M A
authors: MA
authors: Rafiq
authors: M
authors: M
authors: Amin
authors: W
authors: W
authors: Ahmad
mesh_terms: D044466:Asian People / Q000235:genetics*; D003241:Consanguinity; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D009260:Nail Diseases / Q000209:etiology / Q000235:genetics*; D009264:Nails, Malformed / Q000235:genetics*; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*; D019699:Thrombospondins / Q000235:genetics*; D000098907:R-Spondins
chemical_list: D019699:Thrombospondins; C516169:RSPO4 protein, human; D000098907:R-Spondins