4. Congenital Adrenal Hypoplasia
Author:
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine
Link
https://www.jstage.jst.go.jp/article/naika/97/4/97_736/_pdf
Reference14 articles.
1. 1) Lin L, et al: Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: Ten years experience. J Clin Endocrinol Metab 91: 3048-3054, 2006.
2. 2) Zanaria E, et al: An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 372: 635-641, 1994.
3. 3) Muscatelli F, et al: Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 372: 672-676, 1994.
4. 4) Matsumoto T, et al: Complex glycerol kinase deficiency: Molecular-genetic cytogenetic and clinical studies of five Japanese patients. Am J Med Genet 31: 603-616, 1988.
5. 5) Achermann JC, et al: A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22: 125-126, 1999.
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