Björnstad syndrome
| Björnstad syndrome |
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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
- ^ Bjornstad, R. Pili torti and sensory-neural loss of hearing. Proc. 7th Meeting Northern Derm. Soc., Copenhagen May-29, 1965.
- ^ 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link)
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