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Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report

✍ Scribed by A. Benaicha; M. Dommergues; J. M. Jouannic; A. Jacquette; M. Alexandre; M. Le Merrer; H. Ducou Le Pointe; C. Garel

Book ID
112229442
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
194 KB
Volume
34
Category
Article
ISSN
0960-7692

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Prenatal diagnosis of rhizomelic chondro
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency
✍ Karen M. Brookhyser; Mark H. Lipson; Ann B. Moser; Hugo W. Moser; Ralph S. Lachm πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 107 KB

Current practices in prenatal diagnosis of rhizomelic chondrodysplasia punctata (RCDP) are reviewed. A case is presented with a family having one daughter affected with RCDP due to alkyldihydroacetonephosphate acyltransferase synthase (DHAPAT synthase) deficiency, and three subsequent pregnancies. B