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    Article

    A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

    Partial absence of the sacrum is a rare congenital defect which also occurs as an autosomal dominant trait; association with anterior meningocoele, presacral teratoma and anorectal abnormalities constitutes th...

    Alison J. Ross, Victor Ruiz-Perez, Yiming Wang, Donna-Marie Hagan… in Nature Genetics (1998)

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    Article

    Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

    Holoprosencephaly (HPE) is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic and environmental causes. HPE has a prevalence of 1:250 during embryogenesis an...

    Erich Roessler, Elena Belloni, Karin Gaudenz, Philippe Jay… in Nature Genetics (1996)