𝔖 Bobbio Scriptorium
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Genetic Diseases of the Kidney || Nail-Patella Syndrome

✍ Scribed by Morello, Roy


Book ID
121738601
Publisher
Elsevier
Year
2009
Weight
430 KB
Category
Article
ISBN
0124498515

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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

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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