The association of Buschke-Ollendorf syndrome and nail-patella syndrome
β Scribed by Christian Allen Drouin; Hugues Grenon
- Book ID
- 117845404
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 115 KB
- Volume
- 46
- Category
- Article
- ISSN
- 1097-6787
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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
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