Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.
Miskinyte S, Butler MG, Hervé D, Sarret C, Nicolino M, Petralia JD, Bergametti F, Arnould M, Pham VN, Gore AV, Spengos K, Gazal S, Woimant F, Steinberg GK, Weinstein BM, Tournier-Lasserve E.
Miskinyte S, et al.
Am J Hum Genet. 2011 Jun 10;88(6):718-728. doi: 10.1016/j.ajhg.2011.04.017. Epub 2011 May 19.
Am J Hum Genet. 2011.
PMID: 21596366
Free PMC article.
Other symptoms include an hypergonadotropic hypogonadism, hypertension, dilated cardiomyopathy, premature coronary heart disease, premature hair graying, and early bilateral acquired cataract. We show that this syndromic moyamoya is caused by Xq28 deletions removing …
Other symptoms include an hypergonadotropic hypogonadism, hypertension, dilated cardiomyopathy, premature coronary heart disease, premature …