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Article

NR0B1A: an alternatively spliced form of NR0B1.

Molecular genetics and metabolism - 1 Dec 2004

Ho John, Zhang Yao-Hua, Huang Bing-Ling, McCabe Edward R B

Abstract excerpt

The orphan nuclear receptor DAX1 (dosage-sensitive sex reversal-AHC critical region on the X chromosome gene 1), encoded by the NR0B1 gene, plays important roles in the development of the hypothalamic-pituitary-adrenal/gonadal (HPAG) axis as well as in sex determination. Mutations in NR0B1 cause the X-linked cytomegalic form of adrenal hypoplasia congenita (AHC), and associated hypogonadotropic hypogonadism (HH)....

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Identifiers

PMID: 15589120
DOI: 10.1016/j.ymgme.2004.10.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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