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
β¦ LIBER β¦
De novo dup (5p) in a patient with congenital hypoplasia of the adrenal gland
β Scribed by Chen, Harold ;Hoffman, William H. ;Kusyk, Christine J. ;Tuck-Muller, Cathy M. ;Hoffman, Martin G. ;Davis, Loretta S.
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 461 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0148-7299
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