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NPS |
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The NIAMS is conducting an in-depth natural history study of people who have Marfan syndrome (which leads to abnormally long bones), nail-patella syndrome (a congenital skeletal disorder), Stickler syndrome (which causes eye and joint problems), and Ehlers-Danlos syndrome (which causes skin and blood vessel problems). Much to Johnson's surprise, his studies of such mutant mice have led to the identification of the gene responsible for a rare human disorder called nail-patella syndrome (NPS). |
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