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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Orphanet J Rare Dis
Huvudupphovsmän: Najafi, Maryam, Kordi-Tamandani, Dor Mohammad, Behjati, Farkhondeh, Sadeghi-Bojd, Simin, Bakey, Zeineb, Karimiani, Ehsan Ghayoor, Schüle, Isabel, Azarfar, Anoush, Schmidts, Miriam
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2019
Ämnen:
Research
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk