Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.


OBJECTIVE To determine the spectrum of clinical, neuropsychological, and neuroradiologic features in patients with autosomal recessive primary microcephaly (MCPH) due to ASPM gene mutations. METHODS ASPM was sequenced in 52 unrelated MCPH probands. In patients with ASPM mutations, we evaluated the clinical phenotype, cognition, behavior, brain MRI, and… (More)
DOI: 10.1212/WNL.0b013e3181b8799a


Figures and Tables

Sorry, we couldn't extract any figures or tables for this paper.

Slides referencing similar topics