Article
A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.
European journal of human genetics : EJHG - 1 Mar 2005
Dunston Jennifer A, Reimschisel Tyler, Ding Yu-Qiang, Sweeney Elizabeth, Johnson Randy L, Chen Zhou-Feng, McIntosh Iain
Abstract excerpt
Nail patella syndrome (NPS) is an autosomal dominant disorder affecting development of the limb, kidney and eye. NPS is the result of heterozygous loss-of-function mutations in the LIM-homeodomain transcription factor, LMX1B. Recent studies suggest that the NPS phenotype may be more extensive than recognized previously including neurologic and neurobehavioral aspects. To determine whether these findings...
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