A novel syndrome of lethal familial hyperekplexia associated with brain malformation

by Seidahmed Mohammed, Salih Mustafa A, Abdulbasit Omer B, Shaheed Meeralebbae, Al Hussein Khalid, Miqdad Abeer M, Al Rasheed Abdullah K, Alazami Anas M, Alorainy Ibrahim A, Alkuraya Fowzan S
Published 2012-10-01

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

by Muggenthaler, Martina M. A., Chowdhury, Biswajit, Hasan, S. Naimul, Cross, Harold E., Mark, Brian, Harlalka, Gaurav V., Patton, Michael A., Ishida, Miho, Behr, Elijah R., Sharma, Sanjay, Zahka, Kenneth, Faqeih, Eissa, Blakley, Brian, Jackson, Mike, Lees, Melissa, Dolinsky, Vernon, Cross, Leroy, Stanier, Philip, Salter, Claire, Baple, Emma L., Alkuraya, Fowzan S., Crosby, Andrew H., Triggs-Raine, Barbara, Chioza, Barry A.
Published 2017