Mutations in theNKX2.5Gene and thePAX8Promoter in a Girl with Thyroid Dysgenesis
نویسندگان
چکیده
منابع مشابه
Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis
OBJECTIVE Congenital hypothyroidism (CH) is a frequent neonatal endocrine disease with an incidence of about 1:2500 worldwide. Although thyroid dysgenesis (TD) is the most frequent cause of CH cases, its pathogenesis remains unclear. The aim of this study was to screen the hematopoietically-expressedhomeobox gene (HHEX) mutations in Chinese children with TD. METHODS Genomic deoxyribonucleic a...
متن کاملThe Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis
NKX2-5 is a homeodomain-containing transcription factor implied in both heart and thyroid development. Numerous mutations in NKX2-5 have been reported in individuals with congenital heart disease (CHD), but recently a select few have been associated with thyroid dysgenesis, among which the p.A119S variation. We sequenced NKX2-5 in 303 sporadic CHD patients and 38 families with at least two indi...
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Mutations in the NKX2.1 and the PAX8 genes in a boy with thyroid dysgenesis, respiratory and neurological disorders
s of the 51st Workshop for Pediatric Research 51st Workshop for Pediatric Research Göttingen, Germany
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2011
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2010-2341