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Entries: 1-4  
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Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
Authors: Ott, C. E.; Leschik, G.; Trotier, F.; Brueton, L.; Brunner, H. G.; Brussel, W.; Guillen-Navarro, E.; Haase, C.; Kohlhase, J.; Kotzot, D.; Lane, A.; Lee-Kirsch, M. A.; Morlot, S.; Simon, M. E.; Steichen-Gersdorf, E.; Tegay, D. H.; Peters, H.; Mundlos, S.; Klopocki, E.
Date of Publication (YYYY-MM-DD): 2010-06-03
Title of Journal: Human Mutation
Volume: 31
Issue / Number: 8
Start Page: E1587
End Page: 93
Document Type: Article
ID: 539733.0
 
Full text / Content available
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
 
Full text / Content available
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS
Authors: Bartsch, O.; Schmidt, S.; Richter, M.; Morlot, S.; Seemanova, E.; Wiebe, G.; Rasi, S.
Date of Publication (YYYY-MM-DD): 2005-09
Title of Journal: Human Genetics
Volume: 117
Issue / Number: 5
Start Page: 485
End Page: 493
Document Type: Article
ID: 281146.0
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS
Authors: Bartsch, O.; Schmidt, S.; Richter, M.; Morlot, S.; Seemanova, E.; Wiebe, G.; Rasi, S.
Date of Publication (YYYY-MM-DD): 2005-09
Title of Journal: Human Genetics
Volume: 117
Issue / Number: 5
Start Page: 485
End Page: 493
Document Type: Article
ID: 281248.0
Entries: 1-4  
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