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Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia.
Hum Genet. 2021 May;140(5):761-773. doi: 10.1007/s00439-020-02241-4. Epub 2021 Jan 3.
Hum Genet. 2021.
PMID: 33389130
A novel COL3A1 variant associated with vascular Ehlers-Danlos syndrome in a patient presents as recurrent pneumothorax with cavities.
Guo T, Liu Y, Lvqiu S, Lei C, He WL, Jiang Y, Yang D, Wang R, Yang B, Lu C, Xu Y, Ding S, Wang L, Luo H, Peng H.
Guo T, et al.
QJM. 2023 Sep 12;116(8):691-693. doi: 10.1093/qjmed/hcad059.
QJM. 2023.
PMID: 37074961
No abstract available.
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