Linked Life Data

16140563

Source:http://linkedlifedata.com/resource/pubmed/id/16140563

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2006-3-27
pubmed:abstractText
Dyskeratosis congenita is an inherited disorder that usually presents in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy and skin pigmentation. Whilst most cases are X-linked, autosomal dominant and recessive forms have been reported. The significance of the condition lies in premature mortality arising from either bone marrow failure or malignant change within the areas of leukoplakia. Various mucocutaneous and non-mucocutaneous manifestations have been reported. The syndrome arises from an inherited defect within the DKC1 gene that codes for the protein dyskerin in the X-linked recessive form of the disorder, whereas mutations in the RNA component of telomerase (TERC) result in the autosomal dominant form of the condition. The identification of a white patch within the mouth of a child in the absence of any other obvious cause should arouse suspicion of this rare condition. Greater understanding of the molecular biology surrounding this syndrome should lead to improvements in diagnosis, monitoring of disease progression and therapy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1368-8375
pubmed:author
pubmed:issnType
Print
pubmed:volume
42
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
331-6
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Dyskeratosis congenita.
pubmed:affiliation
Unit of Oral Surgery and Medicine, University of Dundee, Park Place, Dundee DD1 4HR, and Department of Oral and Maxillofacial Surgery, Monklands Hospital, Airdre, UK.
pubmed:publicationType
Journal Article, Review