Article
Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene.
The Journal of clinical endocrinology and metabolism - 1 Mar 2007
Baumgartner-Parzer S M, Fischer G, Vierhapper H
Abstract excerpt
CONTEXT: Although CYP21A2 de novo mutations are assumed to account for 1 to 2% of congenital adrenal hyperplasia (CAH) alleles and CYP21 genotyping has been done worldwide, there are only a few well-documented cases of CYP21A2 de novo mutations. The majority of these are deletions resulting from unequal crossings over owing to misalignment of homologous chromosomes during meiosis. Whereas so far, only...
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