PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome
The transcription factor encoded by the PAX2 gene plays a significant role in the development of the urogenital tract, eyes, ears, and central nervous system. Heterozygous mutations in the PAX2 gene cause renal coloboma syndrome, a rare autosomal dominant disorder characterized by optic nerve colobo...
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| Principais autores: | , , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2023
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| Acesso em linha: | https://doi.org/10.3390/kidneydial3030023 https://www.mdpi.com/2673-8236/3/3/23/pdf?version=1688536353 |
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