Article
Molecular and cellular basis of autosomal recessive primary microcephaly.
BioMed research international - 1 Jan 2014
Barbelanne Marine, Tsang William Y
Abstract excerpt
Autosomal recessive primary microcephaly (MCPH) is a rare hereditary neurodevelopmental disorder characterized by a marked reduction in brain size and intellectual disability. MCPH is genetically heterogeneous and can exhibit additional clinical features that overlap with related disorders including Seckel syndrome, Meier-Gorlin syndrome, and microcephalic osteodysplastic dwarfism. In this review, we discuss the...
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