Linked Life Data

18084123

Source:http://linkedlifedata.com/resource/pubmed/id/18084123

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
24
pubmed:dateCreated
2007-12-17
pubmed:abstractText
This report describes a Japanese family with vessel and craniofacial abnormalities. Although the clinical findings of the patient's father fulfilled the diagnostic criteria for Marfan syndrome, arterial tortuosity, aneurysms, hypertelorism and a bifid uvula were noted in both the patient and his father. These findings were compatible with the clinical manifestations that were previously reported in Loeys-Dietz syndrome. A molecular genetic analysis demonstrated a heterozygous missense mutation of the transforming growth factor-beta receptor II gene in both the patient and his father, which thus caused Loeys-Dietz syndrome. This is the first Japanese family case report of typical Loeys-Dietz syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1349-7235
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
46
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1995-2000
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
pubmed:affiliation
Department of Internal Medicine, Sumitomo Hospital, Osaka. togashi-yousuke@sumitomo-hp.or.jp
pubmed:publicationType
Journal Article, Case Reports