Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis

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Absence of mutations in PAX8, NKX2.5, and TSH receptor genes in patients with thyroid dysgenesis Ausência de mutações nos genes PAX-8, NKX2.5 e receptor de TSH em pacientes com disgenesia tireoidiana

Objectives: To precisely classify the various forms of TD, and then to screen for mutations in transcription factor genes active in thyroid development. Subjects and methods: Patients underwent ultrasound, thyroid scan, and serum thyroglobulin measurement to accurately diagnose the form of TD. DNA was extracted from peripheral leukocytes. The PAX8, and NKX2.5 genes were evaluated in all patient...

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Mutations in the NKX2.1 and the PAX8 genes in a boy with thyroid dysgenesis, respiratory and neurological disorders

s of the 51st Workshop for Pediatric Research 51st Workshop for Pediatric Research Göttingen, Germany

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ژورنال

عنوان ژورنال: Arquivos Brasileiros de Endocrinologia & Metabologia

سال: 2012

ISSN: 0004-2730

DOI: 10.1590/s0004-27302012000300004