We describe the search for mutations in six unrelated Czech and four unrelated British families with posterior polymorphous corneal dystrophy (PPCD); a relatively rare eye disorder. Coding exons and intron/exon boundaries of all three genes (VSX1, COL8A2, and ZEB1/TCF8) previously reported to be imp
โฆ LIBER โฆ
Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia
โ Scribed by Anthony J. Aldave; Vivek S. Yellore; Fei Yu; Nirit Bourla; Baris Sonmez; Andrew K. Salem; Sylvia A. Rayner; Kapil M. Sampat; Charles M. Krafchak; Julia E. Richards
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 212 KB
- Volume
- 143A
- Category
- Article
- ISSN
- 1552-4825
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Mutations in the peripherin/RDS gene, which encodes a photoreceptor-specific membrane glycoprotein, have been identified in a variety of retinal phenotypes. However, the mechanisms by which specific mutations in this gene can cause typical features of retinal dystrophies clinically as distinct as re