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Targeted Next-Generation Sequencing Identified Novel Compound Heterozygous Variants in the CDH23 Gene Causing Usher Syndrome Type ID in a Chinese Patient
Usher syndrome includes a group of genetically and clinically heterogeneous autosomal recessive diseases, such as retinitis pigmentosa (RP) and sensorineural hearing loss. Usher syndrome type I (USHI) is characterized by profound hearing impairment beginning at birth, vestibular dysfunction, and uni...
Autores principales: | Zhang, Lianmei, Cheng, Jingliang, Zhou, Qi, Khan, Md. Asaduzzaman, Fu, Jiewen, Duan, Chengxia, Sun, Suan, Lv, Hongbin, Fu, Junjiang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204213/ https://www.ncbi.nlm.nih.gov/pubmed/32425987 http://dx.doi.org/10.3389/fgene.2020.00422 |
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