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Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia
This investigation revealed a homozygous c.5069‐1G>C variation in TENM3 gene although has not been reported for its pathogenicity and can be considered as a novel mutation. The present finding can be used for genetic diagnosis and detection of carriers in the family and other patients with simila...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8905136/ https://www.ncbi.nlm.nih.gov/pubmed/35280100 http://dx.doi.org/10.1002/ccr3.5532 |