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Article

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

Scientific reports - 18 Jan 2023

Strong Alanna, Behr Meckenzie, Lott Carina, Clark Abigail J, Mentch Frank, Da Silva Renata Pellegrino, Rux Danielle R, Campbell Robert, Skraban Cara, Wang Xiang, Anari Jason B, Sinder Benjamin, Cahill Patrick J, Sleiman Patrick, Hakonarson Hakon

Abstract excerpt

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 performed whole exome sequencing on a cohort of 42 children with thoracic insufficiency to elucidate the underlying molecular...

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PMID: 36653407
DOI: 10.1038/s41598-023-27641-0
PMCID: PMC9849333

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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