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Article

NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination.

European journal of medical genetics - 1 Oct 2022

Ijaz Ambreen, Alfadhli Fatima, Alharbi Azizah, Khan Yasir Naseem, Alhawas Yasser Khaled, Hashmi Jamil A, Wali Abdul, Basit Sulman

Abstract excerpt

Nephronophthisis (NPHP) is a group of rare inherited ciliopathy disorders characterized by the multicystic dysplastic kidney, oligohydramnios, and tubulointerstitial nephritis that progresses to end-stage renal disease (ESRD). NPHP is a clinically and genetically heterogeneous disorder with extrarenal symptoms including skeletal deformities, nervous system anomalies, and ophthalmologic features. Three clinical...

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Identifiers

PMID: 35987473
DOI: 10.1016/j.ejmg.2022.104578

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