Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ena Wang"'
Autor:
Wei Liu, Ramzi Temanni, Puthen V. Jithesh, Remy Hobeika, Yvette Macary, Konduru S Sastry, Nancy Choucair, Monko Lek, Rashid Al-Ali, Aouatef Ismail Chouchane, Lotfi Chouchane, Ena Wang, Daniel G. MacArthur, Moncef M. Ladjimi, Francesco M. Marincola, Catherine M. Rose, Remy Thomas, André Mégarbané, Sara Tomei
Publikováno v:
BMC Medical Genetics
Background KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrom
Autor:
Fiza Butt, Bernice Lo, Sara Deola, Sara Tomei, Noor Al-Hajri, Amal Robay, Ronald G. Crystal, Chiara Cugno, Marios Kambouris, Francesco M. Marincola, Alya Al-Shakaki, Ena Wang, Abeer A. Fadda, Khalid A. Fakhro
Publikováno v:
BMC Medical Genetics
Background Ligase IV syndrome, a hereditary disease associated with compromised DNA damage response mechanisms, and Urofacial syndrome, caused by an impairment of neural cell signaling, are both rare genetic disorders, whose reports in literature are