PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome

• Main Authors: Kumar Digvijay (Author), Grazia Maria Virzi (Author), Diego Pomarè Montin (Author), Lucas Gobetti da Luz (Author), Maryam Momeni Taramsari (Author), Ashwani Gupta (Author), Manish Malik (Author), Anurag Gupta (Author), Vinant Bhargava (Author), Meenakshi Verma (Author), Claudio Ronco (Author), Devinder Singh Rana (Author), Anil Kumar Bhalla (Author)
• Format: Book
• Published: MDPI AG, 2023-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...