Linked Life Data

17459035

Source:http://linkedlifedata.com/resource/pubmed/id/17459035

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2007-5-30
pubmed:databankReference
pubmed:abstractText
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature ageing disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Classical and atypical forms of HGPS have been reported and there are clinical overlaps with mandibulo-acral dysplasia and restrictive dermopathy. To date, mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. Correlations between genotype and phenotype in children with progeroid syndromes are beginning to emerge.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0007-0963
pubmed:author
pubmed:issnType
Print
pubmed:volume
156
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1308-14
pubmed:dateRevised
2007-10-26
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.
pubmed:affiliation
Department of Dermatology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, UK. mazereeuw-hautier.j@chu-toulouse.fr
pubmed:publicationType
Journal Article, Review, Case Reports