Identification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis-4.

Zahra Miri KaramAtieh Karimi GohariMohammad Javad Rezazadeh KhabazAbolfazl Yari Seyed Mahdi Emami MeybodiRezvan AttariMaryam TorabiFarzane VafaeieFateme Moradi MoraddahandeSara AmiriKolsoum Saeidi

Published in: Journal of clinical laboratory analysis (2024)

This study expands the genetic causes and phenotypic spectrum of nephronophthisis-4 and reveals the importance of genetic analysis in diagnosing and managing rare inherited kidney disorders, particularly those involving consanguinity.

Keyphrases

genome wide
copy number
gene expression