Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants.
Kubota T, Nagata M, Takagi K, Ishihara Y, Kojima K, Uchikura Y, Yamamoto R, Yonei A, Ozaki E, Kira N, Takahashi S, Homma K, Miyashita Y, Eguchi-Ishimae M, Sakai N, Asano Y, Sakata Y, Ozono K, Eguchi M, Takahashi MP.
Kubota T, et al. Among authors: takagi k.
J Hum Genet. 2024 Aug 21. doi: 10.1038/s10038-024-01284-z. Online ahead of print.
J Hum Genet. 2024.
PMID: 39164360