{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:19:33Z","timestamp":1761513573645},"reference-count":40,"publisher":"Walter de Gruyter GmbH","issue":"7-8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"Abstract<\/jats:title>The morphological and biochemical phenotype of<\/jats:p>Some 48 children (37 girls and 11 boys) with CH associated with thyroid ectopy (n=22), agenesis (n=10), hypoplasia (n=6), or thyroid dysgenesis of unknown cause (n=10) were enrolled. The study participants were born in south-eastern Poland in the years 1993\u20132012 and were selected for neonatal mass screening for CH. DNA was extracted from peripheral blood samples using Master Pure DNA Purification Kit (Epicentre Biotechnologies, Madison, WI, USA). The 12 exons of the<\/jats:p>Novel heterozygous transition in exon 3 (c.68G>A) was detected in a 3-year-old girl with a thyroid hypoplasia. This substitution was not identified in the patient\u2019s parents (de novo event). Additionally, a novel genetic variant in 3\u2032UTR region of exon 12 (c.*416C>T) occurred in a 3-year-old boy with ectopic thyroid tissue and concomitant congenital urogenital malformation. This heterozygous variant was also detected in other healthy family members. Thirteen well-described single nucleotide polymorphisms were revealed in the<\/jats:p>The study reports on the occurrence of two novel heterozygous substitutions in the<\/jats:p>","DOI":"10.1515\/jpem-2014-0310","type":"journal-article","created":{"date-parts":[[2015,1,14]],"date-time":"2015-01-14T17:10:16Z","timestamp":1421255416000},"source":"Crossref","is-referenced-by-count":6,"title":["Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands"],"prefix":"10.1515","volume":"28","author":[{"given":"Malgorzata","family":"Kumorowicz-Czoch","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Madetko-Talowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam","family":"Dudek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Tylek-Lemanska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref241","first-page":"13144","article-title":"has a key role in thyroid cell differentiation","volume":"8","author":"Di Magliano","year":"2000"},{"key":"ref491","first-page":"109","article-title":"Krude von Moers hypothyroidism and pulmonary alterations due to human haploinsufficiency","volume":"2","author":"Schutz","year":"2002","journal-title":"J Clin 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