Katarina Lehmann
Institut fur Medizinische Genetik
Universitatsmedizin Berlin Charite
Berlin
and Regional Genetic Service
UK
Name/email consistency: high
- A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Lehmann, K., Seemann, P., Silan, F., Goecke, T.O., Irgang, S., Kjaer, K.W., Kjaergaard, S., Mahoney, M.J., Morlot, S., Reissner, C., Kerr, B., Wilkie, A.O., Mundlos, S. Am. J. Hum. Genet. (2007)
- A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. Lehmann, K., Seemann, P., Boergermann, J., Morin, G., Reif, S., Knaus, P., Mundlos, S. Eur. J. Hum. Genet. (2006)
- An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation. Lehmann, K., Mundlos, S., Meinecke, P. Eur. J. Pediatr. (2005)