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     Mice help nail down gene for rare syndrome 

A single gene appears to be responsible for a puzzling human disorder in which people suffer abnormal growth of fingernails, toenails, and knee caps.

References: 

Chen, H. . . .B. Lee, R.L. Johnson. 1998. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome. Nature Genetics 19(May):51.

Dreyer, S.D. . . .R.L. Johnson, B. Lee. 1998. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nature Genetics 19(May):47.

Johnson, R.L. 1998. Annual meeting of the Society for Developmental Biology. June. Palo Alto, Calif.

Vollrath, D. . . .I. McIntosh, et al. 1998. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Human Molecular Genetics 7(July):1091.

Sources:

Randy L. Johnson
University of Texas Medical School
MD Anderson Cancer Center
Department of Biochemistry and Molecular Biology
Houston, TX 77030

Iain McIntosh
Johns Hopkins Medical Institutions
Center for Medical Genetics
Baltimore, MD 21287-4922

Douglas Vollrath
Stanford University
Department of Genetics
Stanford, CA 94305

 

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