Abstract:Nail-patella syndrome is caused by mutations in the LMX1B gene that lead to anomalies of dorsal-ventral limb patterning. Some patients show abnormalities of the glomerular basement membranes; however, little is known about the epidermal basement membrane. This study found no abnormalities in the epidermal basement membrane zone. This finding suggests that nail deformities can be caused by the abnormal development of dorsal limb structures rather than dysfunction of the epidermal basement membrane. Nail-patella… Show more
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