Primary Ciliary Dyskinesia: Phenotype Resulting From a Novel Variant of LRRC56 Gene

Primary ciliary dyskinesia (PCD) involves cilia impairment, with resultant symptoms of repeated respiratory infections, sinusitis, and infertility. We report a seven-year-old boy of Arab ethnicity, with consanguineous parents, who was identified to have situs inversus totalis in neonatal life. There...

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Detalles Bibliográficos
Autores principales: Alasmari, Badriah G, Saeed, Muhammad, Alomari, Mohammed A, Alsumaili, Mohammad, Tahir, Ali M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9512311/
https://www.ncbi.nlm.nih.gov/pubmed/36176820
http://dx.doi.org/10.7759/cureus.28472

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9512311/
https://www.ncbi.nlm.nih.gov/pubmed/36176820
http://dx.doi.org/10.7759/cureus.28472

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