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...
I tiakina i:
| Ngā kaituhi matua: | , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
SpringerOpen
2022-01-01
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| Rangatū: | Egyptian Journal of Medical Human Genetics |
| Ngā marau: | |
| Urunga tuihono: | https://doi.org/10.1186/s43042-022-00217-9 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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