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Anticipation in progressive diaphyseal dysplasia

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Description: This report suggests that anticipation occurs in progressive diaphyseal dysplasia and widens the disease spectrum of this concept to bone dysplasias. A dynamic mutation with trinucleotide repeat expansion may or may not be the cause of this osteochondrodysplasia of dense bone with unknown pathogenesis. The search for the molecular explanation of this and other rare genetic disorders that cause dense bones could disclose approaches to more common health problems such as osteoporosis. J Med Genet 2000;37:394-396 ( May )

Type: Case Study
Author/Contact: JORGE M SARAIVA
Institution: Faculdade de Medicina de Coimbra, Avenida Bissaya-Barreto, 3000 Coimbra, Portugal
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Language: English

Submitted by: admin
Hits: 866
Added: Tue Dec 19 2006