Literature DB >> 24589966

Lattice Corneal Dystrophy: a report of two cases in twin sisters due to 3 mutations (T1620C, C1416T, A1924G) in the TGFBI (BIGH3) gene.

C Costagliola1, V Romano2, F Cifariello1, F Aceto1, A Porcellini3.   

Abstract

Phenotypic characteristics associated with mutations in the transforming growth factor beta-induced (TGFBI) gene in two twin sisters suffering from lattice corneal dystrophy are reported. Genomic DNA was extracted from peripheral blood and 3 new mutations in association with exons 11-12-14 of the TGFBI gene were found.

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Year:  2014        PMID： 24589966     DOI： 10.7471/CT.2014.1676

Source DB:  PubMed          Journal:  Clin Ter        ISSN： 0009-9074


  2 in total

1.  Transforming growth factor β induced mutation-associated phenotype in a Chinese family exhibiting lattice corneal dystrophy.

Authors:  Chao Qu; Man Yu; Xiaoxin Guo; Jing Li; Xiaoqi Liu; Yi Shi; Bo Gong
Journal:  Biomed Rep       Date:  2017-08-30

2.  Two mutations in the transforming growth factor beta-induced gene associated with familial Lattice corneal dystrophy.

Authors:  Wen-Ping Cao; Hai-Gang Yuan; Ping Liu; Xue Li; Qi Hu
Journal:  Int J Ophthalmol       Date:  2017-03-18       Impact factor: 1.779
  2 in total

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