Mandibulofacial dysostosis with microcephaly: mutation and database update

- Huang, Lijia, Vanstone, Megan R., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hartley, Taila, Hunter, Alasdair G. W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antoine D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Osmond, Matthew, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E. V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Barrowman, Nick, Silver, Josh, Smith, Amanda C., Temple, I. Karen, van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Consortium, Care4Rare Canada, Allanson, Judith, Bulman, Dennis E., Boycott, Kym M., Lines, Matthew A., Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B.

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

- Schönewolf-Greulich, Bitten, Ronan, Anne, Ravn, Kristine, Baekgaard, Peter, Lodahl, Marianne, Nielsen, Kate, Rendtorff, Nanna D., Tranebjaerg, Lisbeth, Brøndum-Nielsen, Karen, Tümer, Zeynep