Linked Life Data

18950397

Source:http://linkedlifedata.com/resource/pubmed/id/18950397

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-10-27
pubmed:abstractText
Microphthalmia with linear skin defects syndrome is an X-linked dominant disorder characterized by microphthalmia and other ocular anomalies as well as linear, jagged skin defects typically involving the scalp, face, neck, and upper trunk. Other associated characteristics include short stature, developmental delay, congenital heart defects, diaphragmatic hernia, agenesis of the corpus callosum, anencephaly, hydrocephalus, and seizures. Microphthalmia with linear skin defects syndrome is now known to be associated with a deletion of the X chromosome at Xp22. This is an area that has been found to include the HCCS gene, which encodes a holocytochrome c-type synthase believed to be critical in the regulation of apoptosis. We present a patient with classic clinical and genetic findings of MLS syndrome and discuss the primary characteristics and management of this disorder.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1525-1470
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
25
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
548-52
pubmed:dateRevised
2009-3-3
pubmed:meshHeading
pubmed:articleTitle
Microphthalmia with linear skin defects: a case report and review.
pubmed:affiliation
Department of Medicine, Section of Dermatology, University of Chicago, Chicago, Illinois, USA. Vishakha.sharma@uchospitals.edu
pubmed:publicationType
Journal Article, Review, Case Reports