A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia
Lange, Lukas, Pagnamenta, Alistair T., Lise, Stefano, Clasper, Susan, Stewart, Helen, Akha, Elham Sadighi, Quaghebeur, Gerardine, Knight, Samantha J.L., Keays, David A., Taylor, Jenny C., Kini, UshaLanguage:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.12773
Date:
March, 2016
File:
PDF, 1.50 MB
english, 2016