Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

by Bendon Charlotte L, Fenwick Aimée L, Hurst Jane A, Nürnberg Gudrun, Nürnberg Peter, Wall Steven A, Wilkie Andrew OM, Johnson David
Published 2012-11-01

Targeted next-generation sequencing identifies a homozygous nonsense mutation in <it>ABHD12</it>, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome ty...

by Eisenberger Tobias, Slim Rima, Mansour Ahmad, Nauck Markus, Nürnberg Gudrun, Nürnberg Peter, Decker Christian, Dafinger Claudia, Ebermann Inga, Bergmann Carsten, Bolz Hanno
Published 2012-09-01