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.
Revue:
PloS one

ISSN: 1932-6203

Année de publication: 2023

Volumen: 18

Número: 7

Pages: e0287515

Type: Article

DOI: 10.1371/JOURNAL.PONE.0287515 GOOGLE SCHOLAR lock_openAccès ouvert editor

Objectifs de Développement Durable

La source de données: Scopus