Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet–Biedl syndrome-like ciliary defects.

Autor: Tasaki, Koshi, Zhou, Zhuang, Ishida, Yamato, Katoh, Yohei, Nakayama, Kazuhisa
Zdroj: Human Molecular Genetics; 10/1/2023, Vol. 32 Issue 19, p2887-2900, 14p
Databáze: Complementary Index