Article
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands.
Clinical endocrinology - 1 May 2008
Esperante Sebastián A, Rivolta Carina M, Miravalle Lucrecia, Herzovich Viviana, Iorcansky Sonia, Baralle Marco, Targovnik Héctor M
Abstract excerpt
CONTEXT: Thyroid dysgenesis may be associated with mutations in the paired box transcription factor 8 (PAX8) gene and is characterized by congenital hypothyroidism transmitted in an autosomal dominant mode. OBJECTIVES: The aim of this study was to identify new mutations in the PAX8 gene. Sixty congenital hypothyroidism-affected individuals with dysgenetic (agenesis, ectopia and hypoplasia) and eutopic thyroid...
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