Screening Chromosomal Aberrations by Array Comparative Genomic Hybridization in 80 Patients with Congenital Hypothyroidism and Thyroid Dysgenesis

Abstract excerpt

OBJECTIVE: Congenital hypothyroidism occurs in 1:3500 live births and is therefore the most common congenital endocrine disorder. A spectrum of defective thyroid morphology, termed thyroid dysgenesis (TD), represents 80% of permanent congenital hypothyroidism cases. Although several candidate genes have been implicated in thyroid development, comprehensive screens failed to detect mutation carriers in a...

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