Article
Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.
Metabolic brain disease - 1 Dec 2015
Li Fei-Feng, Wang Xu-Dong, Zhu Min-Wei, Lou Zhi-Hong, Zhang Qiong, Zhu Chun-Yu, Feng Hong-Lin, Lin Zhi-Guo, Liu Shu-Lin
Abstract excerpt
Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a highly detrimental human autosomal inherited recessive disorder. The hallmark characteristics of this disease are intrauterine and postnatal growth restrictions, with some patients also having cerebrovascular problems such as cerebral aneurysms. The genomic basis behind most clinical features of MOPD II remains largely unclear. The aim of...
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