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References

These sources were used to develop the Genetics Home Reference gene summary on the LMX1B gene.

Bongers EM, de Wijs IJ, Marcelis C, Hoefsloot LH, Knoers NV. Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet. 2008 Oct;16(10):1240-4. doi: 10.1038/ejhg.2008.83. Epub 2008 Apr 16. PubMed citation
Bongers EM, Huysmans FT, Levtchenko E, de Rooy JW, Blickman JG, Admiraal RJ, Huygen PL, Cruysberg JR, Toolens PA, Prins JB, Krabbe PF, Borm GF, Schoots J, van Bokhoven H, van Remortele AM, Hoefsloot LH, van Kampen A, Knoers NV. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005 Aug;13(8):935-46. PubMed citation
Dunston JA, Hamlington JD, Zaveri J, Sweeney E, Sibbring J, Tran C, Malbroux M, O'Neill JP, Mountford R, McIntosh I. The human LMX1B gene: transcription unit, promoter, and pathogenic mutations. Genomics. 2004 Sep;84(3):565-76. PubMed citation
Entrez Gene
Gene Review: Nail-Patella Syndrome
Sato U, Kitanaka S, Sekine T, Takahashi S, Ashida A, Igarashi T. Functional characterization of LMX1B mutations associated with nail-patella syndrome. Pediatr Res. 2005 Jun;57(6):783-8. Epub 2005 Mar 17. PubMed citation

Reviewed: May 2008

Published: June 17, 2013