Linked Life Data

17167404

Source:http://linkedlifedata.com/resource/pubmed/id/17167404

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2006-12-14
pubmed:abstractText
To describe the clinical and genetic characteristics of a new ophthalmic syndrome, which consists of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen, that segregates as an autosomal recessive trait in a family with four affected siblings. The membrane-type frizzled-related protein (MFRP) and CEH10 homeodomain-containing homolog (CHX10) genes, previously implicated in autosomal recessive forms of nanophthalmos/microphthalmos, were analyzed as candidate genes for this novel disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1090-0535
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1483-9
pubmed:meshHeading
pubmed-meshheading:17167404-Adult, pubmed-meshheading:17167404-Amino Acid Sequence, pubmed-meshheading:17167404-Base Sequence, pubmed-meshheading:17167404-Female, pubmed-meshheading:17167404-Fluorescein Angiography, pubmed-meshheading:17167404-Fovea Centralis, pubmed-meshheading:17167404-Fundus Oculi, pubmed-meshheading:17167404-Genes, Recessive, pubmed-meshheading:17167404-Humans, pubmed-meshheading:17167404-Male, pubmed-meshheading:17167404-Membrane Proteins, pubmed-meshheading:17167404-Microphthalmos, pubmed-meshheading:17167404-Middle Aged, pubmed-meshheading:17167404-Molecular Sequence Data, pubmed-meshheading:17167404-Mutation, pubmed-meshheading:17167404-Optic Disk Drusen, pubmed-meshheading:17167404-Retinal Diseases, pubmed-meshheading:17167404-Retinitis Pigmentosa, pubmed-meshheading:17167404-Syndrome, pubmed-meshheading:17167404-Tomography, Optical Coherence
pubmed:year
2006
pubmed:articleTitle
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.
pubmed:affiliation
Department of Retina, Institute of Ophthalmology, Conde de Valenciana, Mexico City, Mexico.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't