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Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.

Medicine - 8 Mar 2024

Li Xian, Fan Jiaojiao, Fu Rong, Peng Ming, He Jujie, Chen Qiufang, Wang Shujing, Chen Chong

Abstract excerpt

BACKGROUND: Genetic factors contribute to chronic kidney disease (CKD) and end-stage renal disease (ESRD). Advances in genetic testing have enabled the identification of hereditary kidney diseases, including those caused by LMX1B mutations. LMX1B mutations can lead to nail-patella syndrome (NPS) or nail-patella-like renal disease (NPLRD) with only renal manifestations. CASE PRESENTATION: The proband was a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38457557
DOI: 10.1097/MD.0000000000037442
PMCID: PMC10919518

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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