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Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene

โœ Scribed by Adriana Franzese; Nicola Brunetti-Pierri; Raffaella Spadaro; Tokuo Mukai; Giuliana Valerio


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
54 KB
Volume
135A
Category
Article
ISSN
1552-4825

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Novel missense mutation (Leu466Arg) of t
โœ Abe, Shuji; Nakae, Jun; Yasoshima, Kouichi; Tajima, Toshihiro; Shinohara, Nozomi ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 17 KB ๐Ÿ‘ 2 views

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