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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


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