PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome

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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Hlavní autoři: Kumar Digvijay, Grazia Maria Virzì, Diego Pomarè Montin, Lucas Gobetti da Luz, Maryam Momeni Taramsari, Ashwani Gupta, Manish Malik, Anurag Gupta, Vinant Bhargava, Meenakshi Verma, Claudio Ronco, Devinder Singh Rana, Anil Kumar Bhalla
Médium: Artigo
Jazyk:angličtina
Vydáno: 2023
On-line přístup:https://doi.org/10.3390/kidneydial3030023
https://www.mdpi.com/2673-8236/3/3/23/pdf?version=1688536353
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https://doi.org/10.3390/kidneydial3030023
https://www.mdpi.com/2673-8236/3/3/23/pdf?version=1688536353

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