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Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.
Acar, S; Gürsoy, S; Arslan, G; Nalbantoglu, Ö; Hazan, F; Köprülü, Ö; Özkaya, B; Özkan, B.
Afiliación
  • Acar S; Division of Pediatric Endocrinology, Dr. Behçet Uz Children's Education and Research Hospital, Ismet Kaptan Mh, Sezer Dogan Sokagi No:11, 35210, Konak/Izmir, Turkey. dr.acarsezer@gmail.com.
  • Gürsoy S; Division of Pediatric Genetics, Dr. Behçet Uz Children's Education and Research Hospital, Izmir, Turkey.
  • Arslan G; Division of Pediatric Endocrinology, Dr. Behçet Uz Children's Education and Research Hospital, Ismet Kaptan Mh, Sezer Dogan Sokagi No:11, 35210, Konak/Izmir, Turkey.
  • Nalbantoglu Ö; Division of Pediatric Endocrinology, Dr. Behçet Uz Children's Education and Research Hospital, Ismet Kaptan Mh, Sezer Dogan Sokagi No:11, 35210, Konak/Izmir, Turkey.
  • Hazan F; Department of Medical Genetics, Dr. Behçet Uz Children's Education and Research Hospital, Izmir, Turkey.
  • Köprülü Ö; Division of Pediatric Endocrinology, Dr. Behçet Uz Children's Education and Research Hospital, Ismet Kaptan Mh, Sezer Dogan Sokagi No:11, 35210, Konak/Izmir, Turkey.
  • Özkaya B; Division of Pediatric Endocrinology, Dr. Behçet Uz Children's Education and Research Hospital, Ismet Kaptan Mh, Sezer Dogan Sokagi No:11, 35210, Konak/Izmir, Turkey.
  • Özkan B; Division of Pediatric Endocrinology, Dr. Behçet Uz Children's Education and Research Hospital, Ismet Kaptan Mh, Sezer Dogan Sokagi No:11, 35210, Konak/Izmir, Turkey.
J Endocrinol Invest ; 45(4): 773-786, 2022 Apr.
Article en En | MEDLINE | ID: mdl-34780050
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Hipotiroidismo Congénito Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Endocrinol Invest Año: 2022 Tipo del documento: Article País de afiliación: Turquía
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Hipotiroidismo Congénito Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Endocrinol Invest Año: 2022 Tipo del documento: Article País de afiliación: Turquía