We studied the effects of recombinant human growth hormone (GH) treatment in 6 prepubertal children with achondroplasia. The patients' age ranged from 2'!'12 to 85/12 years and the GH dose was of 0.1 IU/kg/ day subcutaneously. Auxological assessments and bone age determinations were performed 6 mont
Recurrence risk for sibs of children with ?sporadic? achondroplasia
โ Scribed by Mettler, Gabrielle; Fraser, F. Clarke
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 8 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000131)90:3<250::aid-ajmg13>3.0.co;2-3
No coin nor oath required. For personal study only.
โฆ Synopsis
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.
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