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A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract.
Carvalho, Ana; Hermanns, Pia; Rodrigues, Ana-Luísa; Sousa, Isabel; Anselmo, João; Bikker, Hennie; Cabral, Rita; Pereira-Duarte, Carlos; Mota-Vieira, Luísa; Pohlenz, Joachim.
Affiliation
  • Carvalho A; 1 Department of Pediatrics, Hospital of Divino Espirito Santo , Ponta Delgada, Portugal .
Thyroid ; 23(9): 1074-8, 2013 Sep.
Article in En | MEDLINE | ID: mdl-23647375
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Urogenital Abnormalities / Congenital Hypothyroidism / Paired Box Transcription Factors / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Child, preschool / Humans / Infant / Male / Middle aged Language: En Journal: Thyroid Journal subject: ENDOCRINOLOGIA Year: 2013 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Urogenital Abnormalities / Congenital Hypothyroidism / Paired Box Transcription Factors / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Child, preschool / Humans / Infant / Male / Middle aged Language: En Journal: Thyroid Journal subject: ENDOCRINOLOGIA Year: 2013 Document type: Article Affiliation country: Country of publication: