Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia

by Irrthum, Alexandre, Devriendt, Koenraad, Chitayat, David, Matthijs, Gert, Glade, Conrad, Steijlen, Peter M., Fryns, Jean-Pierre, Van Steensel, Maurice A. M., Vikkula, Miikka
Published in American journal of human genetics

Haploinsufficiency of TNXB Is Associated with Hypermobility Type of Ehlers-Danlos Syndrome

by Zweers, Manon C., Bristow, Jim, Steijlen, Peter M., Dean, Willow B., Hamel, Ben C., Otero, Marisol, Kucharekova, Martina, Boezeman, Jan B., Schalkwijk, Joost
Published in American journal of human genetics

The Gene for Hypotrichosis of Marie Unna Maps between D8S258 and D8S298: Exclusion of the hr Gene by cDNA and Genomic Sequencing

by van Steensel, Maurice, Smith, Frances J.D., Steijlen, Peter M., Kluijt, Irma, Stevens, Howard P., Messenger, Andrew, Kremer, Hannie, Dunnill, M. Giles S., Kennedy, Cameron, Munro, Colin S., Doherty, Valerie R., McGrath, John A., Covello, Seana P., Coleman, Carrie M., Uitto, Jouni, McLean, W. H. Irwin
Published in American journal of human genetics

A Homozygous Missense Mutation in TGM5 Abolishes Epidermal Transglutaminase 5 Activity and Causes Acral Peeling Skin Syndrome

by Cassidy, Andrew J., van Steensel, Maurice A.M., Steijlen, Peter M., van Geel, Michel, van der Velden, Jaap, Morley, Susan M., Terrinoni, Alessandro, Melino, Gerry, Candi, Eleonora, McLean, W.H. Irwin
Published in American journal of human genetics