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
- Martinez de Lapiscina, I.
- Kouri, C.
- Aurrekoetxea, J.
- Sanchez, M.
- Naamneh Elzenaty, R.
- Sauter, K.-S.
- Camats, N.
- Grau, G.
- Rica, I.
- Rodriguez, A.
- Vela, A.
- Cortazar, A.
- Alonso-Cerezo, M.C.
- Bahillo, P.
- Bertholt, L.
- Esteva, I.
- Castaño, L.
- Flück, C.E.
ISSN: 1932-6203
Datum der Publikation: 2023
Ausgabe: 18
Nummer: 7
Seiten: e0287515
Art: Artikel