Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

BACKGROUND: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis. Mutations in several genes encoding for ion channels localizing to the renal tubules including SLC12A1, KCNJ1, BSND, CLC...

詳細記述

保存先:
書誌詳細
出版年:Orphanet J Rare Dis
主要な著者: Najafi, Maryam, Kordi-Tamandani, Dor Mohammad, Behjati, Farkhondeh, Sadeghi-Bojd, Simin, Bakey, Zeineb, Karimiani, Ehsan Ghayoor, Schüle, Isabel, Azarfar, Anoush, Schmidts, Miriam
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2019
主題:
Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6375149/
https://ncbi.nlm.nih.gov/pubmed/30760291
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0981-5
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