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Article

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

Journal of assisted reproduction and genetics - 1 Apr 2023

Pereira R, Carvalho V, Dias C, Barbosa T, Oliveira J, Alves Â, Oliveira E, Sá R, Sousa M

Abstract excerpt

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 assessment of cilia motility, by high-speed video microscopy (HSVM), axoneme ultrastructure, by transmission electron...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36856967
DOI: 10.1007/s10815-023-02755-6
PMCID: PMC10224902

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