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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2005-2-3
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pubmed:abstractText |
Gelatinous drop-like corneal dystrophy (GDLD) is an early-onset, autosomal recessive condition characterised by amyloid deposits within the cornea. We report the histopathological and molecular genetic findings in a Caucasian child with GDLD who also exhibited global developmental delay.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0950-222X
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
19
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
198-204
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:15254496-Amyloid,
pubmed-meshheading:15254496-Antigens, Neoplasm,
pubmed-meshheading:15254496-Base Sequence,
pubmed-meshheading:15254496-Cell Adhesion Molecules,
pubmed-meshheading:15254496-Cornea,
pubmed-meshheading:15254496-Corneal Dystrophies, Hereditary,
pubmed-meshheading:15254496-Developmental Disabilities,
pubmed-meshheading:15254496-Extracellular Matrix Proteins,
pubmed-meshheading:15254496-Female,
pubmed-meshheading:15254496-Humans,
pubmed-meshheading:15254496-Infant,
pubmed-meshheading:15254496-Lactoferrin,
pubmed-meshheading:15254496-Male,
pubmed-meshheading:15254496-Microscopy, Immunoelectron,
pubmed-meshheading:15254496-Pedigree,
pubmed-meshheading:15254496-Polymorphism, Genetic,
pubmed-meshheading:15254496-Sequence Analysis, DNA,
pubmed-meshheading:15254496-Transforming Growth Factor beta
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pubmed:year |
2005
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pubmed:articleTitle |
Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene.
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pubmed:affiliation |
School of Optometry and Vision Sciences, Cardiff University, UK. akhtars@cf.ac.uk
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pubmed:publicationType |
Journal Article,
Case Reports
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