A novel androgen receptor gene mutation in a patient with congenital adrenal hyperplasia associated with penoscrotal hypospadias
โ Scribed by Sharma, Vikas; Thangaraj, Kumarasamy; Jyothy, Akka
- Book ID
- 123169146
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 106 KB
- Volume
- 164
- Category
- Article
- ISSN
- 1931-5244
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Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia (CAH). CAH due to 21-hydroxylase deficiency is divided into three classes: salt-wasting (classical), non-classical and simple virilizing, reflecting different degrees of clinical severity. Using polymerase chain r
We identified a DAX1 missense mutation, a substitution of arginine for leucine at codon 466 (Leu466Arg), in an infant with X-linked congenital adrenal hypoplasia (AHC). A heterozygous substitution, Leu466Arg, was also identified in his mother and sister. Since leucine at position 466 is well conserv