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46,XY sex reversal 2; SRXY2

Disease ID:16
Name:46,XY sex reversal 2; SRXY2
Associated with:1 target
46,XY complete gonadal dysgenesis | 46 XY gonadal dysgenesis | 46,XY partial gonadal dysgenesis
Database Links
Disease Ontology: DOID:14448
OMIM: 300018
Orphanet: ORPHA242, ORPHA251510


Role:  46,XY sex reversal 2 is due to a duplication of DAX1 gene and not to an alteration of the receptor.
References:  1-3


No ligand related data available for 46,XY sex reversal 2; SRXY2


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1. Swain A, Lovell-Badge R. (1997) A molecular approach to sex determination in mammals. Acta Paediatr Suppl, 423: 46-9. [PMID:9401538]

2. Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R. (1998) Dax1 antagonizes Sry action in mammalian sex determination. Nature, 391 (6669): 761-7. [PMID:9486644]

3. Swain A, Zanaria E, Hacker A, Lovell-Badge R, Camerino G. (1996) Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat. Genet., 12 (4): 404-9. [PMID:8630494]