Linked Life Data

11807445

Source:http://linkedlifedata.com/resource/pubmed/id/11807445

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2002-1-24
pubmed:abstractText
Thirty cases of the Bjornstad syndrome (sensorineural deafness and pili torti) have been reported between 1965, when it was first described, and 1999. Both autosomal dominant and recessive inheritance patterns appear in the literature. We describe a family in which 3 members have the combination of pili torti and varying degrees of hearing loss inherited in an apparently autosomal dominant fashion. Hairs from the father and son of this family showed the classic features of pili torti under scanning electron microscopy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0190-9622
pubmed:author
pubmed:issnType
Print
pubmed:volume
46
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
301-3
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2002
pubmed:articleTitle
Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome.
pubmed:affiliation
Department of Dermatology, Northwestern University Medical School, Children's Memorial Hospital, Chicago, IL, USA.
pubmed:publicationType
Journal Article, Case Reports