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

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 In this st...

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Veröffentlicht in:	Egyptian Journal of Medical Human Genetics 2022-01, Vol.23 (1), p.9-4, Article 9
Hauptverfasser:	Neissi, Mostafa, Al-Badran, Adnan Issa, Mohammadi-Asl, Javad
Format:	Artikel
Sprache:	eng
Schlagworte:	Blindness Case Report Case reports Congenital diseases DNA sequencing Gene mutations Genes Genetic aspects Genetic counseling Genetic disorders Guanylate cyclase 1 GUCY2D Health counseling Leber congenital amaurosis Medical colleges Medical genetics Medicine Medicine & Public Health Missense mutation Mutation Novel mutation Nucleotide sequencing Patients Phenotypes Point mutation Retinal degeneration Whole exome sequencing (WES)
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