Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants

Hydrops fetalis, characterized by abnormal fluid accumulation in fetuses, presents a significant risk of stillbirth and neonatal mortality. Although the etiology of nonimmune hydrops fetalis (NIHF) is multifaceted, recent studies have highlighted genetic factors as crucial determinants. This study f...

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Veröffentlicht in:	Journal of human genetics 2024-08
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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