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- W2410641036 abstract "On presente le cas d'un nouveau-ne masculin atteint de chondrodysplasie ponctuee rhizomelique autosomique recessive. On insiste sur le diagnostic differentiel avec les autres types de chondrodysplasie ponctuee avec transmission hereditaire differente ainsi qu'avec l'embryopathie par warfarine et le syndrome de Zellweger. On discute l'utilite des etudes biochimiques en particulier du dysfonctionnement peroxisomal a propos du diagnostic prenatal de cette entite" @default.
- W2410641036 created "2016-06-24" @default.
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- W2410641036 date "1988-12-01" @default.
- W2410641036 modified "2023-09-23" @default.
- W2410641036 title "[Rhizomelic chondrodysplasia punctata. Apropos of a case]." @default.
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