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Article

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients.

1 Sept 1992

Abstract excerpt

Cartilage-hair hypoplasia (CHH) is an autosomal recessive form of metaphyseal chondrodysplasia characterised by short limbed short stature, hypoplastic hair growth, and impaired cell mediated immunity and erythrocyte production. The syndrome is exceptionally prevalent among the Finns and among the Old Order Amish in the United States; sporadic cases have been reported from other countries. An epidemiological and...

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PMID: 1404295
DOI: 10.1136/jmg.29.9.652

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