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A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
Authors: Lehmann, K.; Seemann, Petra; Silan, F.; Goecke, T. O.; Irgang, Markus; Kjaer, K. W.; Kjaergaard, S.; Mahoney, M. J.; Morlot, S.; Reissner, C.; Kerr, B.; Wilkie, A. O. M.; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2007-08-01
Title of Journal: The American Journal of Human Genetics : AJHG
Volume: 81
Issue / Number: 12
Start Page: 388
End Page: 396
Document Type: Article
ID: 334903.0
 
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A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2
Authors: Kjaer, K. W.; Eiberg, H.; Hansen, L.; van der Hagen, C. B.; Rosendahl, K.; Tommerup, N.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2006-03
Title of Journal: Journal of Medical Genetics (London)
Volume: 43
Issue / Number: 3
Start Page: 225
End Page: 231
Document Type: Article
ID: 313087.0
Entries: 1-2  
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