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      DAX -1 Gene Mutations and Deletions in Japanese Patients with Adrenal Hypoplasia Congenita and Hypogonadotropic Hypogonadism

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          Abnormality of the DAX-1 gene accounts for many instances of congenital adrenal hypoplasia. In the present study, we performed molecular genetic analysis of DAX-1 in 4 unrelated Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. A double-point mutation for V126M and W171X was identified in 1 family and a complex de novo insertion-deletion mutation was identified in a second. The DAX-1 gene was entirely deleted in a 3rd patient as well as in a 4th with the additional feature of glycerol kinase deficiency.

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          Hormone Research in Paediatrics
          S. Karger AG
          10 December 2008
          : 48
          : 1
          : 29-34
          aDepartment of Pediatrics, Nagasaki University School of Medicine, Nagasaki; bDepartment of Pediatrics, National Kagawa Children’s Hospital, Kagawa; cDivision of Endocrinology and Metabolism, Tokyo Metropolitan Kiyose Children’s Hospital, Tokyo; dDepartment of Pediatrics, Wakayama Red Cross Hospital, Wakayama, and eDepartment of Pediatrics, Kyoto University, Faculty of Medicine, Kyoto, Japan
          185364 Horm Res 1997;48:29–34
          © 1997 S. Karger AG, Basel

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          Pages: 6
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