Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort

Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort

Abstract Thoracic insufficiency syndromes are a genetically and phenotypically heterogeneous group of disorders characterized by congenital abnormalities or progressive deformation of the chest wall and/or vertebrae that result in restrictive lung disease and compromised respiratory capacity. We per...

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Bibliographic Details
Main Authors: Alanna Strong, Meckenzie Behr, Carina Lott, Abigail J. Clark, Frank Mentch, Renata Pellegrino Da Silva, Danielle R. Rux, Robert Campbell, Cara Skraban, Xiang Wang, Jason B. Anari, Benjamin Sinder, Patrick J. Cahill, Patrick Sleiman, Hakon Hakonarson
Format: Article
Language:English
Published: Nature Portfolio 2023-01-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-023-27641-0

Internet

https://doi.org/10.1038/s41598-023-27641-0

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