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A Nonsense Variant of ZNF462 Gene Associated With Weiss–Kruszka Syndrome–Like Manifestations: A Case Study and Literature Review
Objective: This study aims to explore the clinical characteristics and genetic basis of a patient with unilateral ptosis and unilateral hearing impairment in pedigree analysis. Methods: The clinical data of the child and his father were collected. The genomic DNA of the patient and his relatives wer...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8860098/ https://www.ncbi.nlm.nih.gov/pubmed/35198003 http://dx.doi.org/10.3389/fgene.2022.781832 |