A novel missense pathogenic variants of TMEM53 in an Iranian family with craniotubular dysplasia, Ikegawa type.
Ren K, Pirmarzdashti N, Pakdel F, Zhu J, Liu W, Wang L, Sadrhosseini M, Abassi F, Xiong Y, Han J, Jiao L, Nishimura G, Yamada T, Qiang R, Guo L.
Ren K, et al. Among authors: guo l.
J Hum Genet. 2025 Feb 3. doi: 10.1038/s10038-025-01319-z. Online ahead of print.
J Hum Genet. 2025.
PMID: 39901041