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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer Health
2019
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| Materias: | |
| 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 |