Association of a <it>de novo </it>16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

by Johnston Jennifer J, Ng David, Schneider Adele S, Bardakjian Tanya M, Biesecker Leslie G
Published 2009-12-01

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the <it>EVC </it>gene

by Cockerham John, Sapp Julie C, Gül Davut, Ulucan Hakan, Johnston Jennifer J, Biesecker Leslie G
Published 2008-10-01