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Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Here, we report a 12-year-old female patient with typical USH1. Targeted panel sequencing revealed compound heterozygous varia...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Hum Genome Var |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group UK
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6348282/ https://ncbi.nlm.nih.gov/pubmed/30774966 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0037-y |
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