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: uchikura y.
J Hum Genet. 2025 Jan;70(1):3-8. doi: 10.1038/s10038-024-01284-z. Epub 2024 Aug 21.
J Hum Genet. 2025.
PMID: 39164360
Free PMC article.