NR0B1
MIM.300473 Xp21.3-p21.2
DAX1
germline mutations in
- congenital adrenal hypoplasia (AHC) (MIM.300200)
- and hypogonadotropic hypogonadism
- and bilateral cryptorchidism
- dosage sensitive male-to-female sex reversal (MIM.300018)
- delayed-onset adrenal insufficiency and hypogonadotrophic hypogonadism
References
Ludbrook LM, Harley VR. Sex determination: a 'window' of DAX1 activity. Trends Endocrinol Metab. 2004 Apr;15(3):116-21. PMID: #15046740#
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