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Article

Novel deletion mutations of the DAX1 (NR0B1) gene in two Taiwanese families with X-linked adrenal hypoplasia congenita.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Oct 2005

Tsai Wen-Yu, Tung Yi-Ching

Abstract excerpt

OBJECTIVE: To analyze the DAX1 (NROB1) gene in Taiwanese families with adrenal hypoplasia congenita. PATIENTS AND METHODS: Two unrelated Taiwanese patients were followed up at our pediatric endocrine clinic. Both patients presented with adrenal crisis. One patient entered puberty spontaneously. However, arrest of puberty was noted in the following years and hypogonadotropic hypogonadism was confirmed by GnRH...

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Source

Identifiers

PMID: 16355812
DOI: 10.1515/jpem.2005.18.10.991

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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