Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants
因复合杂合变异导致 hNav1.4 通道功能丧失而引起的胎儿水肿
期刊:Journal of Human Genetics
影响因子:2.5
doi:10.1038/s10038-024-01284-z
Kubota, Tomoya; Nagata, Miho; Takagi, Kazuko; Ishihara, Yasuki; Kojima, Kurumi; Uchikura, Yuka; Yamamoto, Reina; Yonei, Ayumi; Ozaki, Erina; Kira, Natsuki; Takahashi, Satoe; Homma, Kazuaki; Miyashita, Yohei; Eguchi-Ishimae, Minenori; Sakai, Norio; Asano, Yohihiro; Sakata, Yasushi; Ozono, Keiichi; Eguchi, Mariko; Takahashi, Masanori P