Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in ellis-van Creveld syndrome with borderline intelligence (2008)

Author(s): Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SMH, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL

    • Type of Article: Rapid Communication
    • Journal: Human Mutation
    • Volume: 29
    • Issue: 7
    • Pages: 931-938
    • Publisher: John Wiley & Sons, Inc.
    • Publication type: Article
    • Bibliographic status: Published