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Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
Authors: Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; Ng, V. C.; Chan, W.; Chan, D.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2011-01-07
Title of Journal: American Journal of Human Genetics
Volume: 88
Issue / Number: 1
Start Page: 70
End Page: 75
Document Type: Article
ID: 538366.0
 
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Deletion and point mutations of PTHLH cause brachydactyly type E.
Authors: Klopocki, E.; Hennig, B. P.; Dathe, K.; Koll, R.; de Ravel, T.; Baten, E.; Blom, E.; Gillerot, Y.; Weigel, J. F.; Krüger, G.; Hiort, O.; Seemann, P.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2010-03-12
Title of Journal: The American Journal of Human Genetics
Volume: 86
Issue / Number: 3
Start Page: 434
End Page: 439
Document Type: Article
ID: 541871.0
 
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Entries: 1-2  
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