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Bartter syndrome and hypothyroidism masquerading cystinosis in a 3-year-old girl: rare manifestation of a rare disease

Cystinosis is a multisystem disorder with varied presentations secondary to deposition of cystine crystals in different organ systems. Children with cystinosis typically present with renal tubular acidosis and failure to thrive. We report a 3-year-old girl, born to a third-degree consanguineous coup...

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Bibliografiske detaljer
Udgivet i:BMJ Case Rep
Main Authors: Das, Gargi, Nanda, Pamali Mahasweta, Kaur, Anupriya, Kumar, Rakesh
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2021
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8314690/
https://ncbi.nlm.nih.gov/pubmed/34312133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2021-242954
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