A novel missense mutation in RSPO4 gene underlies autosomal recessive congenital anonychia in a consanguineous Pakistani family.
Chishti
M S
MS
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad 44520, Pakistan.
Kausar
N
N
Rafiq
M A
MA
Amin
M
M
Ahmad
W
W
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
D019699:Thrombospondins; C516169:RSPO4 protein, human; D000098907:R-Spondins