Condition: Microcephaly, Primary Autosomal Recessive, 5
rs1064795945
in
ASPM
gene and
Microcephaly, Primary Autosomal Recessive, 5
PMID 12355089
2002 ASPM is a major determinant of cerebral cortical size.
PMID 19770472
2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
PMID 29706646
2018 Comprehensive genomic analysis of patients with disorders of cerebral cortical development.