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Search: authors:"Mathilda T. M. Mommersteeg"

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The 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 ...