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Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families
Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease. The objective of this study was to characterize the genetic basis and u...
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| Veröffentlicht in: | Front Pediatr |
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| Hauptverfasser: | , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Frontiers Media S.A.
2021
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8107379/ https://ncbi.nlm.nih.gov/pubmed/33981653 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.652011 |
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