Björnstad syndrome

Björnstad syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 33516
ICD10 =
ICD9 =
ICDO =
OMIM = 262000
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

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


Wikimedia Foundation. 2010.

Игры ⚽ Нужен реферат?

Look at other dictionaries:

  • Syndrome de Williams — Classification et ressources externes CIM 10 Q93.8 CIM 9 758.9 OMIM …   Wikipédia en Français

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Björnstad — R., 20th century Scandinavian dermatologist. See B. syndrome …   Medical dictionary

  • Uncombable hair syndrome — Classification and external resources ICD 10 Q84.1 (ILDS Q84.130) OMIM 191480 …   Wikipedia

  • Crandall syndrome — is a very rare congenital disorder characterised by progressive sensorineural hearing loss, hair loss associated with pili torti, and hypogonadism demonstrated through low levels of luteinising hormone and growth hormone. It is thought to be an… …   Wikipedia

  • BCS1L — BCS1 like (yeast), also known as BCS1L, is a human gene.cite web | title = Entrez Gene: BCS1L BCS1 like (yeast)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=617| accessdate = ] PBB Summary section title …   Wikipedia

  • List of diseases (B) — A listing of diseases in the English wikipedia.DiseasesTOC BaBab Bam* Baber s syndrome * Babesiosis * Bacterial endocarditis * Bacterial food poisoning * Bacterial gastroenteritis * Bacterial meningitis * Bacterial pneumonia * Bacterial vaginalis …   Wikipedia

  • Liste Des Maladies Génétiques À Gène Non Identifié — Cet article donne la liste des maladies génétiques à gène non identifié correspondant aux maladies précédées du signe % de Mendelian Inheritance in Man Dans cette liste il existe deux sous groupes : Les maladies dont la localisation… …   Wikipédia en Français

  • Liste Des Maladies Rares Commençant Par Un B — Mise en garde médicale Maladie rare Liste des maladies rares Commençant par un chiffre Commençant par une lettre …   Wikipédia en Français

  • Liste des maladies genetiques a gene non identifie — Liste des maladies génétiques à gène non identifié Cet article donne la liste des maladies génétiques à gène non identifié correspondant aux maladies précédées du signe % de Mendelian Inheritance in Man Dans cette liste il existe deux sous… …   Wikipédia en Français

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”