Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
Sign Up to like & getrecommendations! Published in 2021 at "Human Genetics"
DOI: 10.1007/s00439-021-02344-6
Abstract: During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling molecules. Understanding how genetic variants can disturb normal lung development causing different lung… read more here.
Keywords: agenesis; complex genomic; shh locus; lung ... See more keywords
Neonatal repair of total anomalous pulmonary venous connection accompanied by unilateral lung agenesis and Goldenhar syndrome: a case report
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DOI: 10.1186/s13019-021-01722-5
Abstract: Background Total anomalous pulmonary venous connection accompanied by unilateral lung agenesis and Goldenhar syndrome is extremely rare. Case presentation We present a case of total anomalous pulmonary venous connection accompanied by unilateral lung agenesis and… read more here.
Keywords: total anomalous; anomalous pulmonary; lung agenesis; unilateral lung ... See more keywords
Management of Tracheoesophageal Fistula Repair With Cardiac Dextroposition and Right Lung Agenesis: A Case Report.
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DOI: 10.1213/xaa.0000000000001255
Abstract: Tracheoesophageal fistulae (TEF) commonly occur as part of the vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal, and limb abnormalities (VACTERL) association. However, pulmonary agenesis is not typically seen with TEF. We report the… read more here.
Keywords: agenesis; tracheoesophageal fistula; right lung; repair ... See more keywords