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    Article

    Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome

    Andrew Biggin, Annabelle Enriquez, Melanie Wong… in Journal of Clinical Immunology (2018)

  2. Article

    Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

    Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder. Diagnostic criteria of neonatal MFS (nMFS), the most severe form, are still debated. The aim of our study was to search for clinical a...

    Chantal Stheneur, Laurence Faivre, Gwenaëlle Collod-Béroud… in Pediatric Research (2011)

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    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)

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    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)

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    Article

    Refined map** of X-linked reticulate pigmentary disorder and sequencing of candidate genes

    X-linked reticulate pigmentary disorder with systemic manifestations in males (PDR) is very rare. Affected males are characterized by cutaneous and visceral symptoms suggestive of abnormally regulated inflamma...

    Lane J. Jaeckle Santos, Chao **ng, Robert B. Barnes, Lesley C. Ades… in Human Genetics (2008)