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Baetens D et al. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genet Med. 2017;19(4):367-376. PMID 27490115.
Bashamboo A et al. NR5A1/SF-1 and development and function of the ovary. Ann Endocrinol. 2010;71(3):177-182. PMID: 20394914.
Bashamboo A et al. Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1. Am J Hum Genet. 2010;87(4):505-512. PMID: 20887963.
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Hoivik E et al. Molecular aspects of steroidogenic factor 1 (SF-1). Mol Cell Endocrinol. 2010;315(1-2):27-39. PMID: 19616058.
Igarashi M et al. Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues. Hum Mutat. 2017;38(1):39-42. PMID: 27610946.
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Where can parents/caregivers get more information on NR5A1-related phenotypes?
- Patient information website concerning DSD:
- Patient information website concerning POI: