Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1999-11-17
pubmed:abstractText
The phacomatoses are disorders characterized by multiple hamartomas of the central and peripheral nervous system, eye, skin, and viscera. Many of these diseases have well-defined Mendelian patterns of inheritance because of a mutation of a single gene. In other instances, no clear patterns of inheritance or genetic susceptibility have been identified. In some cases, patients are at increased risk of malignancy. The combination of ocular and CNS manifestations seen in patients with the phacomatoses makes neuro-ophthalmologic evaluation particularly important in the diagnosis and management of these patients.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1042-3680
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
775-87, x
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
The phacomatoses.
pubmed:affiliation
Department of Ophthalmology, Emory University School of Medicine, Atlanta,Georgia, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Research Support, Non-U.S. Gov't