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  1. No Access

    Article

    Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

    Linda Richards, Paul Lockhart, Christel Depienne and colleagues identify heterozygous DCC mutations in four families and five sporadic individuals with agenesis of the corpus callosum (ACC). They report that DCC ...

    Ashley P L Marsh, Delphine Heron, Timothy J Edwards, Angélique Quartier… in Nature Genetics (2017)

  2. No Access

    Article

    A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

    We report here the identification of a new human homeobox gene, PITX3, and its involvement in anterior segment mesenchymal dysgenesis (ASMD) and congenital cataracts in humans. The PITX3 gene is the human homolog...

    Elena V. Semina, Robert E. Ferrell, Helen A. Mintz-Hittner… in Nature Genetics (1998)

  3. No Access

    Article

    Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

    Rieger syndrome (REG) is an autosomal–dominant human disorder that includes anomalies of the anterior chamber of the eye, dental hypoplasia and a protuberant umbilicus. We report the human cDNA and genomic cha...

    Elena V. Semina, Rebecca Reiter, Nancy J. Leysens, W. Lee M. Alward… in Nature Genetics (1996)