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Article

An Amino-Terminal DAX1 (<i>NROB1</i>) Missense Mutation Associated with Isolated Mineralocorticoid Deficiency

12 Dec 2006

Abstract excerpt

CONTEXT: Mutations in DAX1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome gene 1; NR0B1) cause X-linked adrenal hypoplasia congenita, a disease characterized by primary adrenal failure, testicular dysgenesis, and gonadotropin deficiency. Most DAX1 mutations are deletions, nonsense, or frameshift mutations that markedly impair its transcriptional activity. Missense...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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Identifiers

PMID: 17164309
DOI: 10.1210/jc.2005-2429

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