Fig. 1-Pedigree of family described in text showing haplotypes generated with four polymorphic markers around the NPS locus. Affected haplotype boxed and bold. m+ =tested positive for 750+1G<A mutation; m =tested negative for 750+1G<A mutation
β¦ LIBER β¦
Prenatal diagnosis of nail-patella syndrome by intrauterine kidney biopsy
β Scribed by Gubler, Marie-Claire ;Levy, Micheline
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 138 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0148-7299
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The Nail-Patella syndrome (NPS) is an autosomal dominant connective-tissue disorder characterized by the absence or hypoplasia of the nails and patella, posterior illiac horns, elbow deformities, congenital nephropathy cervical ribs and eye problems. The presence of the posterior iliac horns is pat