Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility

PROPOSE: We here present a female case with primary ciliary dyskinesia (PCD) and infertility. In this report, we also present the evaluation of the patient family, including her twin sister, also with PCD and infertility. METHODS: Confirmation of the PCD clinical diagnosis was performed through asse...

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Detalles Bibliográficos
Autores principales: Pereira, R., Carvalho, V., Dias, C., Barbosa, T., Oliveira, J., Alves, Â., Oliveira, E., Sá, R., Sousa, M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10224902/
https://www.ncbi.nlm.nih.gov/pubmed/36856967
http://dx.doi.org/10.1007/s10815-023-02755-6

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