HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
Michael J Friez, Susan Sklower Brooks, Roger E Stevenson, Michael Field, Monica J Basehore, Lesley C Adès, Courtney Sebold, Stephen McGee, Samantha Saxon, Cindy Skinner, Maria E Craig, Lucy Murray, Richard J Simensen, Ying Yzu Yap, Marie A Shaw, Alison Gardner, Mark Corbett, Raman Kumar, Matthias Bosshard, Barbara van Loon, Patrick S Tarpey, Fatima Abidi, Jozef Gecz, Charles E Schwartz
BMJ Open Apr 2016, 6 (4) e009537; DOI: 10.1136/bmjopen-2015-009537