Björnstad syndrome

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Björnstad syndrome
Classification and external resources
OMIM 262000
DiseasesDB 33516

Björnstad syndrome is a congenital condition involving deafness and hair abnormalities.

It was first characterized in 1965, in Oslo, by prof. Roar Theodor Bjørnstad (1908–2002).[1]

It has been mapped to BCS1L.[2]

References[edit]

  1. ^ Bjornstad, R. Pili torti and sensory-neural loss of hearing. Proc. 7th Meeting Northern Derm. Soc., Copenhagen May-29, 1965.
  2. ^ Hinson JT, Fantin VR, Schönberger J, et al. (February 2007). "Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome". N. Engl. J. Med. 356 (8): 809–19. doi:10.1056/NEJMoa055262. PMID 17314340.