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Article

Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.

Nephrology (Carlton, Vic.) - 1 Sept 2016

Konomoto Takao, Imamura Hideaki, Orita Mayuko, Tanaka Etsuko, Moritake Hiroshi, Sato Yuji, Fujimoto Shouichi, Harita Yutaka, Hisano Satoshi, Yoshiura Koh-Ichiro, Nunoi Hiroyuki

Abstract excerpt

AIM: Mutations of LMX1B cause nail-patella syndrome, a rare autosomal dominant disorder. Recently, LMX1B R246Q heterozygous mutations were recognised in nephropathy without extrarenal manifestation. The aim of this study was to clarify characteristics of nephropathy caused by R246Q mutation. METHODS: Whole exome sequencing was performed on a large family with nonsyndromic autosomal dominant nephropathy without...

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PMID: 26560070
DOI: 10.1111/nep.12666

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

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