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LIM Homeobox Transcription Factor 1 Beta associated nephropathy in an infant without Nail-Patella-Syndrome

Year: 2024

Type: article

Abstract: Mutations in LIM homeobox transcription factor 1 beta ( LMX1B ) are associated with autosomal dominant steroid-resistant nephrotic syndrome. The age of presentation and clinical manifestations are quite heterogeneous and a significant proportion of patients have nail patella syndrome. We report an infant with isolated nephrotic syndrome without extrarenal manifestations associated with a sporadic heterozygous variation in LMX1B .

Source: Asian Journal of Pediatric Nephrology

DOI: 10.4103/ajpn.ajpn_17_24

Authors: Rehna K. Rahman, T Hari Sankar, Divya Pachat

Institution: Malabar Institute of Medical Sciences

Language: English

Topic: Renal Diseases and Glomerulopathies

Subfield: Nephrology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4406792994

FWCI:

Cites: 5

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Related to: 9