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Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14.
Letteboer TG, Benzinou M, Merrick CB, Quigley DA, Zhau K, Kim IJ, To MD, Jablons DM, van Amstel JK, Westermann CJ, Giraud S, Dupuis-Girod S, Lesca G, Berg JH, Balmain A, Akhurst RJ. Letteboer TG, et al. Among authors: kim ij. Front Genet. 2015 Mar 12;6:67. doi: 10.3389/fgene.2015.00067. eCollection 2015. Front Genet. 2015. PMID: 25815003 Free PMC article.
Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology.
Kang HC, Quigley DA, Kim IJ, Wakabayashi Y, Ferguson-Smith MA, D'Alessandro M, Birgitte Lane E, Akhurst RJ, Goudie DR, Balmain A. Kang HC, et al. Among authors: kim ij. J Invest Dermatol. 2013 Jul;133(7):1907-10. doi: 10.1038/jid.2013.45. Epub 2013 Jan 28. J Invest Dermatol. 2013. PMID: 23358096 Free PMC article. No abstract available.
889 results