|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
|
|
pubmed:dateCreated |
2008-7-28
|
|
pubmed:abstractText |
To describe the clinical and genetic characteristics of the second family with a recently described recessive syndrome characterized by posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disk drusen.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
0002-9394
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
146
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
323-328
|
|
pubmed:meshHeading |
pubmed-meshheading:18554571-Adult,
pubmed-meshheading:18554571-Consanguinity,
pubmed-meshheading:18554571-Electroretinography,
pubmed-meshheading:18554571-Female,
pubmed-meshheading:18554571-Fluorescein Angiography,
pubmed-meshheading:18554571-Frameshift Mutation,
pubmed-meshheading:18554571-Genes, Recessive,
pubmed-meshheading:18554571-Heterozygote,
pubmed-meshheading:18554571-Humans,
pubmed-meshheading:18554571-Male,
pubmed-meshheading:18554571-Membrane Proteins,
pubmed-meshheading:18554571-Microphthalmos,
pubmed-meshheading:18554571-Microscopy, Acoustic,
pubmed-meshheading:18554571-Middle Aged,
pubmed-meshheading:18554571-Optic Disk Drusen,
pubmed-meshheading:18554571-Pedigree,
pubmed-meshheading:18554571-Polymerase Chain Reaction,
pubmed-meshheading:18554571-Retinitis Pigmentosa,
pubmed-meshheading:18554571-Retinoschisis,
pubmed-meshheading:18554571-Tomography, Optical Coherence,
pubmed-meshheading:18554571-Visual Acuity
|
|
pubmed:year |
2008
|
|
pubmed:articleTitle |
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.
|
|
pubmed:affiliation |
Department of Ophthalmology, University of Barcelona, Hospital de Sant Pau y de la Santa Creu, Barcelona, Spain.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
