Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss‐of‐Function Variants in Oral‐Facial‐Digital Syndrome Gene, OFD1.

Autor: Xu, Yifei1 (AUTHOR), Tsurinaga, Yuki2 (AUTHOR), Matsumoto, Tsubasa3 (AUTHOR), Muta, Ryuji4 (AUTHOR), Yano, Taichi5 (AUTHOR), Sakaida, Hiroshi1 (AUTHOR), Masuda, Sawako6 (AUTHOR), Ueda, Koki1 (AUTHOR), Feng, Guofei1 (AUTHOR), Gotoh, Shimpei7 (AUTHOR), Ogawa, Satoru8 (AUTHOR), Ikejiri, Makoto9 (AUTHOR), Nakatani, Kaname10 (AUTHOR), Nagao, Mizuho11 (AUTHOR), Tanabe, Masaki9 (AUTHOR), Takeuchi, Kazuhiko1 (AUTHOR) kazuhiko@med.mie-u.ac.jp, Das, Sofia Priyadarsani (AUTHOR)
Zdroj: Case Reports in Genetics. 8/9/2024, Vol. 2024, p1-7. 7p.
Databáze: Academic Search Ultimate
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