Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis
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DOI: 10.1089/thy.2021.0597
Abstract: Context: Congenital hypothyroidism due to thyroid dysgenesis (CHTD) is a predominantly sporadic and nonsyndromic (NS) condition of unknown etiology. NS-CHTD shows a 40-fold increase in relative risk among first-degree relatives (1 in 100 compared with… read more here.
Keywords: etiology; whole exome; dysgenesis; congenital hypothyroidism ... See more keywords
GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling
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DOI: 10.1093/hmg/ddac093
Abstract: Abstract Congenital hypothyroidism due to thyroid dysgenesis (TD), presented as thyroid aplasia, hypoplasia or ectopia, is one of the most prevalent rare diseases with an isolated organ malformation. The pathogenesis of TD is largely unknown,… read more here.
Keywords: thyroid dysgenesis; locus 2q33; risk locus; wnt signaling ... See more keywords