Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification - Kumorowicz-Czoch, Malgorzata; Madetko-Talowska, Anna; Tylek-Lemanska, Dorota; Pietrzyk, Jacek J.; Starzyk, Jerzy (Journal of Pediatric Endocrinology & Metabolism, 2015)
Keywords: Cohort Studies; congenital hypothyroidism; Congenital Hypothyroidism - diagnosis; Congenital Hypothyroidism - genetics; copy number changes; DNA Mutational Analysis; Female; Gene Deletion; Gene Dosage; Genetic Testing - methods; Humans; Infant, Newborn; Male; multiplex ligation-dependent probe amplification; Multiplex Polymerase Chain Reaction; Neonatal Screening; thyroid dysgenesis; Thyroid Dysgenesis - diagnosis; Thyroid Dysgenesis - genetics; Thyroid Gland - diagnostic imaging; Ultrasonography