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Updated: Jul 14, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Nonfatal congenital alveolar dysplasia due to abnormalities of NO synthase isoforms
1Division of Asthma, Allergy and Lung Biology, King's College London School of Medicine at Guy's, King's College and St. Thomas' Hospitals, London, UK.
Abstract:
Congenital alveolar dysplasia (CAD) is a rare disorder thought to represent alveolar growth arrest at the canalicular stage of development. An infant with CAD diagnosed on lung biopsy is reported, her respiratory problems resolved spontaneously and she was doing well at follow-up. The infant additionally suffered from systemic hypertension and hypertrophic pyloric stenosis. In conclusion, we speculate that the association of CAD with systemic hypertension and hypertrophic pyloric stenosis might be explained by abnormalities of isoforms of nitric oxide synthase (NOS) resulting in congenital deformities involving smooth muscles.
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