Björnstad syndrome

Björnstad syndrome

Infobox_Disease
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Caption =
DiseasesDB = 33516
ICD10 =
ICD9 =
ICDO =
OMIM = 262000
MedlinePlus =
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Björnstad syndrome is a congenital condition involving deafness and hair abnormalities.

It was first characterized in 1965. [Bjornstad, R. Pili torti and sensory-neural loss of hearing. Proc. 7th Meeting Northern Derm. Soc., Copenhagen May-29, 1965.]

It has been mapped to BCS1L.cite journal |author=Hinson JT, Fantin VR, Schönberger J, "et al" |title=Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome |journal=N. Engl. J. Med. |volume=356 |issue=8 |pages=809–19 |year=2007 |month=February |pmid=17314340 |doi=10.1056/NEJMoa055262 |url=http://content.nejm.org/cgi/pmidlookup?view=short&pmid=17314340&promo=ONFLNS19]

References


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