Cargando…
Four different gene-related cone–rod dystrophy: clinical and genetic findings in six Chinese families with diverse modes of inheritance
Purpose: To investigate pathogenic variants in six families with cone–rod dystrophy (CORD) presenting various inheritance patterns by using whole-exome sequencing (WES) and analyzing phenotypic features. Methods: A total of six families with CORD were enrolled in Ningxia Eye Hospital for this study....
Autores principales: | Li, Zhen, Cheng, Wanyu, Zi, Feiyin, Wang, Juan, Huang, Xiaoyu, Sheng, Xunlun, Rong, Weining |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10652761/ https://www.ncbi.nlm.nih.gov/pubmed/38028590 http://dx.doi.org/10.3389/fgene.2023.1157156 |
Ejemplares similares
-
Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families
por: Zi, Feiyin, et al.
Publicado: (2023) -
Cone rod dystrophies
por: Hamel, Christian P
Publicado: (2007) -
Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy
por: Collison, Frederick T., et al.
Publicado: (2019) -
Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1
por: Martin-Gutierrez, Maria Pilar, et al.
Publicado: (2022) -
The Emergence of Rod-Cone Cellular Interaction
por: Aït-Ali, Najate, et al.
Publicado: (2022)