Linked Life Data

19489868

Source:http://linkedlifedata.com/resource/pubmed/id/19489868

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2010-1-8
pubmed:abstractText
We report familial segregation of hereditary total leuconychia (HTL) with ptosis and restriction of ocular motility due to congenital fibrosis of the extraocular muscles type 1 (CFEOM1) in three generations. In this family, 4 people have HTL and ptosis, and there is restriction of ocular motility due to CFEOM1 in 10 members of the family. To our knowledge, this is the first description of familial segregation of CFEOM1 and HTL, and the second report of unexpected clinical involvement of CFEOM1. We suggest that CFEOM1 is not an isolated phenomenon in these cases. These phenotypes provide valuable insight into the function of the gene(s) localized to 12q13, giving a new perspective on the clinical component of molecular dysmorphology, but this requires further clarification.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1365-2230
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
e570-2
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Unexpected clinical involvement of hereditary total leuconychia with congenital fibrosis of the extraocular muscles in three generations.
pubmed:affiliation
Zübeyde Hanim Maternity Hospital, Ankara, Turkey. trkaradeniz@hotmail.com
pubmed:publicationType
Journal Article, Case Reports