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See Latest ArticlesMolecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families
Journal of Medical Genetics, 11/10/09
Willems M et al. – The clinical analysis of the 5 SCKL cases with PCNT mutations showed that they all presented minor skeletal changes and clinical features compatible with MOPDII diagnosis. Despite variable severity, MOPDII is a genetically homogeneous condition due to loss–of function of pericentrin.
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Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations
Journal of Neurosurgery: Pediatrics, 11/09/09
Relevance Score: 80%
Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene
American Journal of Medical Genetics, 10/19/09
Relevance Score: 80%
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Influence of Genetic Polymorphism in Matrix Metalloproteinase-3 on Extent of Coronary Atherosclerosis and Risk of Coronary Artery Stenosis
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