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
โฆ LIBER โฆ
Novel nonsense mutation (W302X) in the steroid 21-hydroxylase gene of a Finnish patient with the salt-wasting form of congenital adrenal hyperplasia
โ Scribed by Antii Levo; Jukka Partanen
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 105 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1059-7794
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Mutations in the 3 -hydroxysteroid dehydrogenase (3 -HSD) type II gene have been reported in a small number of affected females. We report a 46,XX girl born to consanguineous parents from Chile. At birth, she had normal but hyperpigmented female external genitalia. At 60 days she presented salt loss