Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report

Abstract Background Leber congenital amaurosis (LCA), the severe form of inherited retinal degenerative disorder, is a prevalent disorder in the first year of life. Recently, genetic studies discovered that different gene mutations are responsible for LCA clinical manifestations. Case presentation I...

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Principais autores:	Mostafa Neissi, Adnan Issa Al-Badran, Javad Mohammadi-Asl
格式:	Artigo
語言:	Inglês
出版:	SpringerOpen 2022-01-01
叢編:	Egyptian Journal of Medical Human Genetics
主題:	Leber congenital amaurosis GUCY2D Novel mutation Whole exome sequencing (WES) Case report
在線閱讀:	https://doi.org/10.1186/s43042-022-00217-9
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