A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

Mutations in the DAX1 gene cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). In affected boys, primary adrenal insufficiency occurs soon after birth or during early childhood; HHG is recognized at the expected time of puberty. In this report, we describe the...

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Hlavní autoři: Tabarin, Antoine, Achermann, John C., Recan, Dominique, Bex, Véronique, Bertagna, Xavier, Christin-Maitre, Sophie, Ito, Masafumi, Jameson, J. Larry, Bouchard, Philippe
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2000
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC377437/
https://ncbi.nlm.nih.gov/pubmed/10675358
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