Associated Papers
Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.
Harita Y et al.
European Journal of Human Genetics : Ejhg, 2020
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Wesdorp M et al.
Human Genetics, 2018
A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B.
Mukai M et al.
Journal of Dermatological Science, 2018
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
Harita Y et al.
Pediatric Nephrology (berlin, Germany), 2017
A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].
Cross SH et al.
Plos Genetics, 2014
LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.
Isojima T et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.
Dunston JA et al.
Genomics, 2004
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