[Adrenogenital syndrome. II. Molecular biology].

Abstract excerpt

The adrenogenital syndrome (AGS) is usually caused by steroid 21-hydroxylase deficiency. Two steroid 21-hydroxylase genes are present within the major histocompatibility complex (MHC) on chromosome 6: an active gene (CYP21) and a pseudogene (CYP21P). Several types of mutations have been described; these mutations can be categorized as gene deletions, gene duplications, gene conversions and smaller mutations...

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