- Ralph Witzgall
Pflugers Arch 2017 Aug 5;469(7-8):927-936. Epub 2017 Jul 5.
Institute for Molecular and Cellular Anatomy, University of Regensburg, Universitätsstr. 31, 93053, Regensburg, Germany.
The pathognomonic symptoms of patients with nail-patella syndrome are their small or absent patellae and dysplastic or absent finger- and toenails. Many of the patients suffer from renal symptoms which also affect their prognosis. In 1998, mutations in the gene encoding the transcription factor LMX1B were identified as underlying this autosomal-dominant disease. Read More