Associated Papers
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1
Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family.
Morantes S et al.
Cornea, 2016
Clinical and basic aspects of gelatinous drop-like corneal dystrophy.
Kawasaki S et al.
Developments in Ophthalmology, 2011
Chromosomal sharing in atypical cases of gelatinous drop-like corneal dystrophy.
Tsujikawa M et al.
Japanese Journal of Ophthalmology, 2010
Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.
Paliwal P et al.
Molecular Vision, 2010
Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients.
Alavi A et al.
Investigative Ophthalmology & Visual Science, 2007
A missense mutation in the M1S1 gene found in a turkish patient with gelatinous droplike corneal dystrophy.
Yildirim N et al.
Cornea, 2007
Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families.
Zhang B et al.
Molecular Vision, 2007
Phenotypic investigation of cell junction-related proteins in gelatinous drop-like corneal dystrophy.
Takaoka M et al.
Investigative Ophthalmology & Visual Science, 2007
Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene.
Akhtar S et al.
Eye (london, England), 2005
Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy.
Tian X et al.
American Journal of Ophthalmology, 2004
A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy.
Ha NT et al.
American Journal of Ophthalmology, 2003
Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy.
Ren Z et al.
Human Genetics, 2002
A novel mutation in the M1S1 gene responsible for gelatinous droplike corneal dystrophy.
Tasa G et al.
Investigative Ophthalmology & Visual Science, 2001
Identification of the gene responsible for gelatinous drop-like corneal dystrophy.
Tsujikawa M et al.
Nature Genetics, 1999
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