Identification of Two Novel DNAAF2 Variants in Two Consanguineous Families with Primary Ciliary Dyskinesia.
Chenyang LuDanhui YangCheng LeiRongchun WangTing GuoHong LuoPublished in: Pharmacogenomics and personalized medicine (2021)
Our findings expand the spectrum of DNAAF2 variants and link DNAAF2 to female infertility and likely scoliosis in patients with PCD.