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Development and first results of the BEAT PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar

Archive ouverte | Mani, Rahma | CCSD

International audience. Aim: To establish an online open database registering mutations and specific combinations of mutations causing PCD.

Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.

Archive ouverte | Crowley, Suzanne | CCSD

International audience. Genetic diagnosis of motile ciliopathies is conducted by healthcare, commercial and private laboratories. 88 genes have been implicated in motile ciliopathies (PCD, male infertility and assoc...

Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD

Archive ouverte | Goutaki, Myrofora | CCSD

International audience. Clinical data on primary ciliary dyskinesia (PCD) are limited, heterogeneous and mostly derived from retrospective chart reviews, leading to missing data and unreliable symptoms and results o...

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