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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

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