Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III

Biallelic pathogenic variants in DYNC2H1 are the cause of short-rib thoracic dysplasia type III with or without polydactyly (OMIM #613091), a skeletal ciliopathy characterized by thoracic hypoplasia due to short ribs. In this report, we review the case of a patient who was admitted to the Neonatal I...

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Detalles Bibliográficos
Autores principales: Buchh, Muqsit, Gillespie, Patrick J., Treat, Kayla, Abreu, Marco A., Schwantes-An, Tae-Hwi Linus, Helm, Benjamin M., Fang, Fang, Xuei, Xiaoling, Mantcheva, Lili, Suhrie, Kristen R., Graham, Brett H., Conboy, Erin, Vetrini, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808550/
https://www.ncbi.nlm.nih.gov/pubmed/36442996
http://dx.doi.org/10.1101/mcs.a006254

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808550/
https://www.ncbi.nlm.nih.gov/pubmed/36442996
http://dx.doi.org/10.1101/mcs.a006254

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