Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

1. Martinez de Lapiscina, I.
2. Kouri, C.
3. Aurrekoetxea, J.
4. Sanchez, M.
5. Naamneh Elzenaty, R.
6. Sauter, K.-S.
7. Camats, N.
8. Grau, G.
9. Rica, I.
10. Rodriguez, A.
11. Vela, A.
12. Cortazar, A.
13. Alonso-Cerezo, M.C.
14. Bahillo, P.
15. Bertholt, L.
16. Esteva, I.
17. Castaño, L.
18. Flück, C.E.

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DOI: 10.1371/JOURNAL.PONE.0287515 GOOGLE SCHOLAR lock_openOpen access editor

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