A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

BACKGROUND: Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations include also laterality defects and risk of male infertility....

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Detalles Bibliográficos
Autores principales: Rocca, Maria Santa, Piatti, Gioia, Michelucci, Angela, Guazzo, Raffaella, Bertini, Veronica, Vinanzi, Cinzia, Caligo, Maria Adelaide, Valetto, Angelo, Foresta, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654168/
https://www.ncbi.nlm.nih.gov/pubmed/33167880
http://dx.doi.org/10.1186/s12881-020-01160-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654168/
https://www.ncbi.nlm.nih.gov/pubmed/33167880
http://dx.doi.org/10.1186/s12881-020-01160-5

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