Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing

PURPOSE: Congenital cataract is one of the most frequent causes of visual impairment and childhood blindness. Approximately one quarter to one third of congenital cataract cases may have a genetic cause. However, phenotypic variability and genetic heterogeneity hamper correct genetic diagnosis. In t...

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Autores principales: Kondo, Yukiko, Saitsu, Hirotomo, Miyamoto, Toshinobu, Lee, Byung Joo, Nishiyama, Kiyomi, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Kim, Jeong Hun, Yu, Young Suk, Matsumoto, Naomichi
Formato: Artigo
Lenguaje:Inglês
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3580970/
https://ncbi.nlm.nih.gov/pubmed/23441109
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