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
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Pili torti;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
Prof. Dr. med. Peter Altmeyer