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Entries: 1-4  
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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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Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome
Authors: Brancati, F.; Fortugno, P.; Bottillo, I.; Lopez, M.; Josselin, E.; Boudghene-Stambouli, O.; Agolini, E.; Bernardini, L.; Bellacchio, E.; Iannicelli, M.; Rossi, A.; Dib-Lachachi, A.; Stuppia, L.; Palka, G.; Mundlos, S.; Stricker, S.; Kornak, U.; Zambruno, G.; Dallapiccola, B.
Date of Publication (YYYY-MM-DD): 2010-08-13
Title of Journal: American Journal of Human Genetics
Volume: 87
Issue / Number: 2
Start Page: 265
End Page: 273
Document Type: Article
ID: 539722.0
 
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Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.
Authors: Kornak, U.; Brancati, F.; Le Merrer, M.; Lichtenbelt, K.; Höhne, W.; Tinschert, S.; Garaci, F. G.; Dallapiccola, B.; Nürnberg, P.
Date of Publication (YYYY-MM-DD): 2010-03-26
Title of Journal: American Journal of Medical Genetics Part A
Volume: 152A
Issue / Number: 4
Start Page: 870
End Page: 874
Document Type: Article
ID: 541590.0
 
Full text / Content available
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
Authors: Hennies, H. C.; Kornak, U.; Zhang, H. K.; Egerer, J.; Zhang, X.; Seifert, W.; Kuhnisch, J.; Budde, B.; Natebus, M.; Brancati, F.; Wilcox, W. R.; Muller, D.; Kaplan, P. B.; Rajab, A.; Zampino, G.; Fodale, V.; Dallapiccola, B.; Newman, W.; Metcalfe, K.; Clayton-Smith, J.; Tassabehji, M.; Steinmann, B.; Barr, F. A.; Nurnberg, P.; Wieacker, P.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2008-12
Title of Journal: Nature Genetics
Volume: 40
Issue / Number: 12
Start Page: 1410
End Page: 1412
Document Type: Article
ID: 397157.0
Entries: 1-4  
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