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| Respiratory ciliopathies including non-CF bronchiectasis v5.4 | ARMC2 |
Aakash Joshi gene: ARMC2 was added gene: ARMC2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: ARMC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARMC2 were set to PMCID 11954227 Phenotypes for gene: ARMC2 were set to recurrent respiratory infections; bronchitis; rhinosinusitis; sperm abnormalities Penetrance for gene: ARMC2 were set to unknown Review for gene: ARMC2 was set to RED Added comment: PMCID 11954227 identified one individual with a homozygous in ARMC2 which resulted in the known sperm abnormalities, but in addition to this was found to have Primary Ciliary Dyskinesia features with recurrent respiratory infections, bronchitis and rhinosinusitis. Sources: Literature |
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