Hierfür ist eine Anmeldung erforderlich. Bitte registrieren Sie sich bei uns oder melden Sie sich mit Ihren Zugangsdaten an.
HistoryThis section has been translated automatically.
Björnstad, 1965
DefinitionThis section has been translated automatically.
Autosomal recessive malformation characterized by a combination of pili torti with congenital sensorineural hearing loss. Normal intelligence development.
EtiopathogenesisThis section has been translated automatically.
Mutation of the BCS1L gene located on chromosome 2q34-36. BCS1L encodes a member of the AAA family of ATPases, which are necessary for certain complexes in mitochondria and thus for their function.
LiteratureThis section has been translated automatically.
- Aggarwal D et al (2004) Bjornstad syndrome (2004) Indian J Pediatr 71: 759-761
- Hinson JT et al (2007) Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. N Engl J Med 356: 809-819
Recommended articles
Incoming links (1)
Pili torti;Outgoing links (1)
Pili torti;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer