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A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter’s syndrome with 4 years follow-up

BACKGROUND: Transient antenatal Bartter’s syndrome caused by MAGED2 mutation is a rare X-linked recessive renal tubular disorder. Cases reported are mostly infants, and the long-term prognosis of the disease is still under investigation. CASE PRESENTATION: We encountered a preterm male infant with p...

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Detalles Bibliográficos
Autores principales: Ma, Mingsheng, Zhang, Mengqi, Zhou, Yu, Yao, Fengxia, Wei, Min, Li, Zhenghong, Qiu, Zhengqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8665482/
https://www.ncbi.nlm.nih.gov/pubmed/34895150
http://dx.doi.org/10.1186/s12882-021-02553-1