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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Bibliographic Details
Main Authors: Kumar Digvijay, Grazia Maria Virzi, 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
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Kidney and Dialysis
Subjects:
renal coloboma syndrome (RCS)
optic nerve coloboma
PAX2
mutation
end-stage renal disease (ESRD)
Online Access:https://www.mdpi.com/2673-8236/3/3/23

Internet

https://www.mdpi.com/2673-8236/3/3/23

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