## Abstract Neuroferritinopathy is a hereditary neurodegenerative disorder caused by mutations in the ferritin light chain gene (__FTL1__). The cardinal features are progressive movement disturbance, hypoferritinemia, and iron deposition in the brain. To date, five mutations have been described in
✦ LIBER ✦
Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: Description of novel mutations and novel genotype–phenotype correlations
✍ Scribed by Juan Carlos Zenteno; Vicente Correa-Gomez; Concepción Santacruz-Valdez; Raul Suarez-Sanchez; Cristina Villanueva-Mendoza
- Book ID
- 116456920
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 454 KB
- Volume
- 89
- Category
- Article
- ISSN
- 0014-4835
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## Communicated by Mark Paalman Hereditary hemorrhagic telangiectasia (HHT; Osler-Weber-Rendu disease) is an autosomal dominant disease characterized by arteriovenous malformations ranging from cutaneous and mucous membrane telangiectasias to more severe pulmonary, gastrointestinal, and cerebral ar