Linked Life Data

12219993

Source:http://linkedlifedata.com/resource/pubmed/id/12219993

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2002-9-10
pubmed:abstractText
We present the clinical, genetic and histopathologic findings in two siblings with Muscle-Eye-Brain Disease (MEB-D), an autosomal recessive disease characterized by mental retardation, muscular dystrophy, retinal hypoplasia and brain abnormalities.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1120-6721
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
253-61
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:12219993-Abnormalities, Multiple, pubmed-meshheading:12219993-Brain, pubmed-meshheading:12219993-Chromosomes, Human, Pair 1, pubmed-meshheading:12219993-Eye Abnormalities, pubmed-meshheading:12219993-Eye Diseases, Hereditary, pubmed-meshheading:12219993-Fatal Outcome, pubmed-meshheading:12219993-Female, pubmed-meshheading:12219993-Genotype, pubmed-meshheading:12219993-Glaucoma, pubmed-meshheading:12219993-Humans, pubmed-meshheading:12219993-Infant, pubmed-meshheading:12219993-Intellectual Disability, pubmed-meshheading:12219993-Magnetic Resonance Imaging, pubmed-meshheading:12219993-Male, pubmed-meshheading:12219993-Muscular Dystrophies, pubmed-meshheading:12219993-Ocular Hypotension, pubmed-meshheading:12219993-Optic Nerve, pubmed-meshheading:12219993-Pedigree, pubmed-meshheading:12219993-Retina, pubmed-meshheading:12219993-Siblings, pubmed-meshheading:12219993-Strabismus
pubmed:articleTitle
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease.
pubmed:affiliation
Cole Eye institute, The Cleveland Clinic Foundation, OH 44195, USA.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't