Linked Life Data

18684681

Source:http://linkedlifedata.com/resource/pubmed/id/18684681

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-9-8
pubmed:abstractText
Familial leukonychia with sebaceous cysts is a rare autosomal dominant genetic condition, previously reported in four families. Molecular basis of the disorder is unknown. We report on a five-generation family with subtotal leukonychia and sebaceous cysts. Six individuals were affected, five women and one boy. One of the women exhibited a cervical ependymoma and bilateral multiple inoperable acoustic neuromas. These tumours have never been reported in association with leukonychia and may represent an uncommon severe complication of the syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1769-7212
pubmed:author
pubmed:issnType
Print
pubmed:volume
51
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
436-43
pubmed:meshHeading
pubmed:articleTitle
Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype?
pubmed:affiliation
Clinical Genetic Unit, University Hospital, Amiens, France. morin.gilles@chu-amiens.fr
pubmed:publicationType
Journal Article, Case Reports