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Importance of genetic diagnosis of DAX-1 deficiency: example from a large, multigenerational family.

Sandrine S Ostermann, Roberto R Salvi, Mariarosaria M Lang-Muritano, Marie-Jeanne MJ Voirol, Rudolf R Puttinger, Rolf C RC Gaillard, Eugen E Schoenle, and François P FP Pralong

Horm Res 65(4):163-8 (2006) PMID 16514244

Inactivating mutations of DAX-1 give rise to the X-linked form of adrenal hypoplasia congenita (AHC). Affected fetuses are at risk of early postnatal Addisonian crisis, but the variable phenotypic expression of DAX-1 insufficiency renders this diagnosis challenging.

DOI: 10.1159/000091831
Version: za2963e q8za0 q8zba q8zc2 q8zde q8ze3 q8zfc q8zg3

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