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Identification of a homozygous c.1039C>T (p.R347C) variant in CYP17A1 in a 67-year-old female patient with partial 17α-hydroxylase/17,20-lyase deficiency.
Yamagata, Satoshi; Kageyama, Kazunori; Usui, Takeshi; Saito, Kohei; Takayasu, Shinobu; Usutani, Mari; Terui, Ken; Daimon, Makoto.
Affiliation
  • Yamagata S; Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan.
  • Kageyama K; Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan.
  • Usui T; Department of Medical Genetics, Shizuoka General Hospital, Shizuoka 420-8527, Japan.
  • Saito K; Shizuoka Graduate University of Public Health, Shizuoka 420-0881, Japan.
  • Takayasu S; Department of Medical Genetics, Shizuoka General Hospital, Shizuoka 420-8527, Japan.
  • Usutani M; Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan.
  • Terui K; Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan.
  • Daimon M; Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Hirosaki 036-8562, Japan.
Endocr J ; 69(2): 115-120, 2022 Feb 28.
Article de En | MEDLINE | ID: mdl-34483146
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Steroid 17-alpha-hydroxylase / Hyperplasie congénitale des surrénales Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Adolescent / Aged / Female / Humans Langue: En Journal: Endocr J Sujet du journal: ENDOCRINOLOGIA Année: 2022 Type de document: Article Pays d'affiliation: Japon
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Steroid 17-alpha-hydroxylase / Hyperplasie congénitale des surrénales Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Adolescent / Aged / Female / Humans Langue: En Journal: Endocr J Sujet du journal: ENDOCRINOLOGIA Année: 2022 Type de document: Article Pays d'affiliation: Japon