Cargando…
A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review
OBJECTIVE(S): Granular and lattice corneal dystrophies (GCDs & LCDs) are autosomal dominant inherited disorders of the cornea. Due to genetic heterogeneity and large genes, unraveling the mutation is challenging. MATERIALS AND METHODS: Patients underwent comprehensive clinical examination, and t...
Autores principales: | Mohammadi, Aliasgar, Ahmadi Shadmehri, Azam, Taghavi, Mahnaz, Yaghoobi, Gholamhossein, Pourreza, Mohammad Reza, Tabatabaiefar, Mohammad Amin |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Mashhad University of Medical Sciences
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7478261/ https://www.ncbi.nlm.nih.gov/pubmed/32952948 http://dx.doi.org/10.22038/ijbms.2020.36763.8757 |
Ejemplares similares
-
Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2
por: Jun, Ikhyun, et al.
Publicado: (2021) -
The TGFBI R555W mutation induces a new granular corneal dystrophy type I phenotype
por: Zhu, Yanan, et al.
Publicado: (2011) -
Molecular genetics of Chinese families with TGFBI corneal dystrophies
por: Zhang, Ting, et al.
Publicado: (2011) -
Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing
por: Chao-Shern, Connie, et al.
Publicado: (2019) -
Genotype-phenotype correlation of TGFBI corneal dystrophies in Polish patients
por: Nowińska, Anna K., et al.
Publicado: (2011)