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

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 wh...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9849333/
https://www.ncbi.nlm.nih.gov/pubmed/36653407
http://dx.doi.org/10.1038/s41598-023-27641-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9849333/
https://www.ncbi.nlm.nih.gov/pubmed/36653407
http://dx.doi.org/10.1038/s41598-023-27641-0

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