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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
 
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