Article

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

2022-08-22

Abstract excerpt

<h4>Background: </h4> Primary ciliary dyskinesia (PCD; MIM #242650) is a rare multisystemic genetic diseases, whose diagnostic is challenge. Additional data to complete the complex puzzle of PCD genomic analysis is of upmost importance to better understand PCD pathophysiology. We here present a female case with PCD and infertility. We also present the evaluation of the patient family, including her twin sister, al...

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Literature Corpus work: 63d4464b-fcad-53e4-aca2-0fee75ff5cbf
DOI: 10.21203/rs.3.rs-1971584/v1

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