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2011 | 1 |
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COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
PLoS Genet. 2011 May;7(5):e1002062. doi: 10.1371/journal.pgen.1002062. Epub 2011 May 19.
PLoS Genet. 2011.
PMID: 21625620
Free PMC article.
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG.
Dobyns WB, et al.
Am J Med Genet A. 2008 Jul 1;146A(13):1637-54. doi: 10.1002/ajmg.a.32293.
Am J Med Genet A. 2008.
PMID: 18536050
Free PMC article.
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