1 to 2 of 2 literature results

• Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.

  We describe mutations in the PML nuclear body protein Sp110 in the syndrome veno-occlusive disease with immunodeficiency, an autosomal recessive disor…

  Authors: Tony Roscioli, Simon T Cliffe, Donald B Bloch, Christopher G Bell, Glenda Mullan, Peter J Taylor, Maria Sarris, Joanne Wang, Jennifer A Donald, Edwin P Kirk,…

  Source: Nature genetics. 2006 Jun

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• Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.

  Saethre-Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent …

  Authors: Paul A James, Bronwyn Culling, Glenda Mullan, Mark Jenkins, George Elakis, Anne M Turner, David M Mowat, Meredith Wilson, Peter Anderson, Ravi Savarirayan,…

  Source: Genes, chromosomes & cancer. 2009 Jul

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