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Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.
Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):826-34. doi: 10.1002/ajmg.b.31227. Epub 2011 Aug 2.
Am J Med Genet B Neuropsychiatr Genet. 2011.
PMID: 21812104
A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.
Al-Owain M, Al-Zahrani J, Al-Bakheet A, Abudheim N, Al-Younes B, Aldhalaan H, Al-Zaidan H, Colak D, Almohaileb F, Abouzied ME, Al-Fadhli F, Meyer B, Kaya N.
Al-Owain M, et al.
Clin Genet. 2013 Sep;84(3):258-64. doi: 10.1111/cge.12066. Epub 2012 Dec 21.
Clin Genet. 2013.
PMID: 23181898
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Teaching neuroimages: harlequin syndrome caused by lesion of sympathetic regulatory neurons.
Bohlega S, Stigsby B, Al Mohaileb F.
Bohlega S, et al. Among authors: al mohaileb f.
Neurology. 2010 Jun 15;74(24):e106. doi: 10.1212/WNL.0b013e3181e3963c.
Neurology. 2010.
PMID: 20548037
No abstract available.
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