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We report on a 7-month-old boy with interstitial deletion of 6q21-q23 and split-hand defect. He died at 7 months. This is the fifth patient with distal limb anomaly associated with a rearrangement of 6q21 region, and supports previous suggestions that there may be candidate gene(s) for distal limb development in the 6q21 region.
BACKGROUND Autosomal-dominant striatal degeneration is a rare autosomal-dominant neurodegenerative movement disorder characterized by slowly progressive parkinsonism. Recently, a mutation of the cyclic nucleotide phosphodiesterase 8B gene was reported to be a causal gene mutation of this disease. METHODS We report on the clinical characteristics of 2(More)
© 2008 The Authors JEADV 2009, 23, 169–243 Journal compilation © 2008 European Academy of Dermatology and Venereology complexes with the cytoplasmic domain of E-cadherin and desmoglein-3.5,6 Davis et al.7 and Xiao et al.8 reported that p120 catenin regulates expression levels of E-cadherin in epithelial cells and VE-cadherin in vascular endothelial cells,(More)
A 70-year-old man with a 28-year history of type 2 diabetes mellitus was admitted due to persistent vomiting and neurological abnormalities in Nov 2012. He had developed gait disturbance and diplopia for six months during antiplatelet therapy, which was initiated following the diagnosis of a cerebellar infarction in June 2012. He had nystagmus, truncal(More)