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Am J Med Genet. 2000 Jan 31;90(3):250-1.

Recurrence risk for sibs of children with "sporadic" achondroplasia.

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  • 1Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

Abstract

Because of gonadal mosaicism, the risk of recurrence of achondroplasia in the sibs of achondroplastic children with unaffected parents is presumably higher than twice the mutation rate, but it has not been measured. Data from 11 Canadian genetics centers provide an estimate of 1/443, or 0.02%.

PMID:
10678665
[PubMed - indexed for MEDLINE]
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