Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses

•Two children with antenatal BS showed different manifestations.•Exome sequencing identified three novel SLC12A1 mutations.•Four additional novel pathogenic/likely pathogenic variants of SLC12A1 and six in the SLC34A2 gene were identified.•Two children from one family who were affected by different...

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Veröffentlicht in:	Clinica chimica acta 2022-06, Vol.531, p.120-125
Hauptverfasser:	Yi, Sheng, Li, Mengting, Yang, Qi, Zhang, Xiaofei, Chen, Fei, Qin, Zailong, Yi, Shang, Huang, Limei, Wei, Hao, Zhang, Qinle, Luo, Jingsi
Format:	Artikel
Sprache:	eng
Schlagworte:	Bartter syndrome Different outcomes Next-generation sequencing Pathogenic variants SLC12A1
Online-Zugang:	Volltext
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