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A Novel Missense Pathogenic Variants of TMEM53 in an Iranian Family with Craniotubular Dysplasia, Ikegawa Type

Kaitao Ren,Niloofar Pirmarzdashti,Farzad Pakdel, Jinhui Zhu, Wanqi Liu, Lin Wang, Moosa Sadrhosseini, Farzaneh Abassi, Yao Xiong, Jiaqi Han,Lianying Jiao,Gen Nishimura,Takahiro Yamada,Rong Qiang,Long Guo

Journal of Human Genetics(2025)

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