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A Novel Homozygous Thyroglobulin Gene Variant Presenting with Massive Congenital Goiter and Neonatal Airway Obstruction

2026-02-25

Abstract excerpt

<title>Abstract</title> <p>Congenital hypothyroidism due to thyroid dyshormonogenesis is a rare inherited disorder that may present with goiter of variable severity. Massive congenital goiter causing life-threatening respiratory distress at birth is exceptionally uncommon. We report a late-preterm male neonate who presented immediately after delivery with severe respiratory failure requiring endotracheal intubati...

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Literature Corpus work
9c1e9056-b5d5-58ef-b008-9ec95d657890
DOI
10.21203/rs.3.rs-8508133/v1
Open publication

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A Novel Homozygous Thyroglobulin Gene Variant Presenting with Massive Congenital Goiter and Neonatal Airway ObstructionDOI 10.21203/rs.3.rs-8508133/v1
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