Protein C deficiency with recurrent systemic thrombosis associated with compound heterozygous PROC missense variants by Mikio Shiba, Shuichiro Higo, Yu Morishita, Yasuhiro Ichibori, Yoshihiro Kin, Yasushi Sakata, Yoshiharu Higuchi

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Whole Exome Sequencing Reveals Rare Variants in Genes Associated with Metabolic Disorders in Women with PCOS by Priyal Sharma, Ashutosh Halder, Manish Jain, Manish Tripathi

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Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway by Jianlong Zhuang, Yanqing Li, Yu’e Chen, Hegan Zhang, Shufen Liu, Manman Hu, Chunnuan Chen

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Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

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A remarkable and durable response to tislelizumab treatment of an anaplastic thyroid carcinoma without targetable genomic alterations: a case report by Jingjing Chai, Jiaqi Lv, Jian Xiong, Xiuwen Chen, Senyuan Luo, Zhiguo Luo, Zhiguo Luo, Ming Luo

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