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A sequence variation in 3’UTR ofCYP21A2gene correlates with a mild form of congenital adrenal hyperplasia

✍ Scribed by S. Menabò BSc, PhD,A. Balsamo,L. Baldazzi…


Book ID
125407921
Publisher
Springer-Verlag
Year
2012
Tongue
English
Weight
496 KB
Volume
35
Category
Article
ISSN
0391-4097

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Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating p