Search Results - "LAW, ROSALIND"

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    New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse by Dugan, Sarah L., Temme, Renee T., Olson, Rebecca A., Mikhailov, Anna, Law, Rosalind, Mahmood, Huda, Noor, Abdul, Vincent, John B.

    “…Latent TGFB‐binding protein 3 (LTBP3) is known to increase bio‐availability of TGFB. A homozygous mutation in this gene has previously been associated with…”
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    Journal Article
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    Analysis of a putative imprinted locus within the TRAPPC9 intellectual disability gene by Law, Rosalind

    Published 01-01-2014
    “…Individuals with ID and autism were identified carrying copy number variations within the autosomal recessive intellectual disability gene TRAPPC9 (chr8q24.3)…”
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    Dissertation
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