New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome
Abstract Purpose Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS. Herein, we used whole-exome sequencing (WES) to deter...
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| Principais autores: | , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BMC
2022-09-01
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| Serija: | BMC Ophthalmology |
| Teme: | |
| Online dostop: | https://doi.org/10.1186/s12886-022-02597-3 |
| Oznake: |
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