Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma
Khan, Kamron, Rudkin, Adam, Parry, David A., Burdon, Kathryn P., McKibbin, Martin, Logan, Clare V., Abdelhamed, Zakia I.A., Muecke, James S., Fernandez-Fuentes, Narcis, Laurie, Kate J., Shires, Mike, Fogarty, Rhys, Carr, Ian M., Poulter, James A., Morgan, Joanne E., Mohamed, Moin D., Jafri, Hussain, Raashid, Yasmin, Meng, Ngy, Piseth, Horm, Toomes, Carmel, Casson, Robert J., Taylor, Graham R., Hammerton, Michael, Sheridan, Eamonn, Johnson, Colin A., Inglehearn, Chris F., Craig, Jamie E., Ali, Manir
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
Get full text
Journal Article
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects
Khan, Kamron, Logan, Clare V., McKibbin, Martin, Sheridan, Eamonn, Elçioglu, Nursel H., Yenice, Ozlem, Parry, David A., Fernandez-Fuentes, Narcis, Abdelhamed, Zakia I.A., Al-Maskari, Ahmed, Poulter, James A., Mohamed, Moin D., Carr, Ian M., Morgan, Joanne E., Jafri, Hussain, Raashid, Yasmin, Taylor, Graham R., Johnson, Colin A., Inglehearn, Chris F., Toomes, Carmel, Ali, Manir
Published in Human molecular genetics (15.02.2012)
Published in Human molecular genetics (15.02.2012)
Get full text
Journal Article