A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report

RATIONALE: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare condition, most cases of which are caused by genetic mutations. Several loss-of-function mutations in the ATP6V0A4 gene have been recently reported. PATIENT CONCERNS: A 2-month, 24-day-old Chinese girl presenting with vomi...

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Detalles Bibliográficos
Autores principales: Yuan, Jinna, Huang, Ke, Wu, Wei, Zhang, Li, Dong, Guanping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6709018/
https://www.ncbi.nlm.nih.gov/pubmed/31348261
http://dx.doi.org/10.1097/MD.0000000000016504

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6709018/
https://www.ncbi.nlm.nih.gov/pubmed/31348261
http://dx.doi.org/10.1097/MD.0000000000016504

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