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Cell Cycle. 2014;13(10):1650-1. doi: 10.4161/cc.28706. Epub 2014 Apr 1.

Previously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.

Author information

1
Max Planck Institute for Molecular Genetics; Berlin, Germany.
2
Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany.
3
Department of Pediatric Neurology; Charité University Medicine Berlin; Berlin, Germany; Institute of Cell Biology and Neurobiology; Charité University Medicine Berlin; Berlin, Germany.

KEYWORDS:

ASPM; MCPH; Reunion paradox; compound heterozygous mutation; congenital microcephaly; intellectual deficit

PMID:
24691052
PMCID:
PMC4050170
DOI:
10.4161/cc.28706
[Indexed for MEDLINE]
Free PMC Article

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