Article révisé par les pairs
Titre:
  • NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance
Auteur:Laan, Maris; Kasak, Laura; Timinskas, Kęstutis; Grigorova, Marina; Venclovas, Česlovas; Renaux, Alexandre; Lenaerts, Tom; Punab, Margus
Informations sur la publication:Clinical endocrinology
Statut de publication:Publié, 2021-04-01
Sujet CREF:Endocrinologie
Diabétologie
Métabolisme
Mots-clés:exome sequencing
incomplete penetrance
NR5A1
partial gonadal dysgenesis
patient management
SOS1
splice-site variant
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0300-0664
info:doi/10.1111/cen.14381
info:scp/85097288366

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