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  1. No Access

    Article

    FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

    Kathleen Millen and colleagues report that mutations in FOXC1 lead to cerebellar defects and contribute to Dandy-Walker malformation in humans.

    Kimberly A Aldinger, Ordan J Lehmann, Louanne Hudgins… in Nature Genetics (2009)

  2. No Access

    Article

    Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

    Stephen Robertson and colleagues report that germline mutations in WTX cause an X-linked sclerosing bone dysplasia marked by increased bone density and craniofacial malformations in females and lethality in males...

    Zandra A Jenkins, Margriet van Kogelenberg, Tim Morgan, Aaron Jeffs… in Nature Genetics (2009)