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The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
Fanis, Pavlos; Skordis, Nicos; Toumba, Meropi; Picolos, Michalis; Tanteles, George A; Neocleous, Vassos; Phylactou, Leonidas A.
Afiliación
  • Fanis P; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Skordis N; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Toumba M; Division of Paediatric Endocrinology, Paedi Center for specialized Paediatrics, Nicosia, Cyprus.
  • Picolos M; School of Medicine, University of Nicosia, Nicosia, Cyprus.
  • Tanteles GA; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Neocleous V; Department of Paediatrics, Paediatric Endocrinology Clinic, Aretaeio Hospital, Nicosia, Cyprus.
  • Phylactou LA; Department of Endocrinology, Alithias Endocrinology Center, Nicosia, Cyprus.
Front Endocrinol (Lausanne) ; 14: 1156616, 2023.
Article en En | MEDLINE | ID: mdl-37324257
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hiperplasia Suprarrenal Congénita Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: Front Endocrinol (Lausanne) Año: 2023 Tipo del documento: Article País de afiliación: Chipre
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Hiperplasia Suprarrenal Congénita Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: Front Endocrinol (Lausanne) Año: 2023 Tipo del documento: Article País de afiliación: Chipre