Titre:
  • The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres
Auteur:Persani, Luca; Cools, Martine B C M M.; Ioakim, Stamatina; Ahmed, Sayed Faisal; Andonova, Silvia; Avbelj-Stefanija, Magdalena; Baronio, Federico; Bouligand, Jérome; Bruggenwirth, Hennie H.T.; Davies, Justin J.H.; De Baere, Elfride; Dzivite-Krisane, Iveta; Fernandez-Alvarez, Paula; Gheldof, Alexander; Giavoli, Claudia; Gravholt, Claus C.H.; Hiort, Olaf; Holterhus, Paul Martin; Juul, Anders; Krausz, Csilla; Lagerstedt-Robinson, Kristina; McGowan, Ruth; Neumann, Uta; Novelli, Antonio; Peyrassol, Xavier; Phylactou, Leonidas; Rohayem, Julia; Touraine, Philippe; Westra, Dineke; Vezzoli, Valeria; Rossetti, Raffaella
Informations sur la publication:Endocrine Connections, 11, 12, e220367
Statut de publication:Publié, 2022-12
Sujet CREF:Généralités
Mots-clés:congenital hypogonadotropic hypogonadism
disorders of sex development
next-generation sequencing
primary ovarian insufficiency
rare diseases or syndromes
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:2049-3614
info:doi/10.1530/EC-22-0367
info:scp/85143912696