Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome (2003)

Author(s): Ruiz-Perez VL, Tompson SWJ, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA

      • Journal: American Journal of Human Genetics
      • Volume: 72
      • Issue: 3
      • Pages: 728-732
      • Publisher: Cell Press
      • Publication type: Article
      • Bibliographic status: Published

      Professor Judith Goodship
      Professor of Medical Genetics

      Dr Michael Wright
      Associate Clinical Lecturer