Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies.
Mareike Dahmer-HeathValentin SchrieverSabine KollmannCarolin SchleithoffAndrea TitieniMetin CetinerLudwig PatzerBurkhard TönshoffMatthias HansenPetra PennekampJoachim GerßMartin KonradJens KönigPublished in: Journal of medical genetics (2020)
Hyposmia is a part of the clinical spectrum of BBS and of other renal ciliopathies. Depending on the genetic background, clinicians should be aware of this subtle and so far underappreciated symptom when clinically assessing patients with BBS or TMEM67 gene variants.