KEGG   VARIANT: 79648v1
Entry
79648v1                      Variant                               
Name
MCPH1 mutation
Gene
MCPH1  microcephalin 1 [KO:K19403]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607117
Network
nt06512  Chromosome cohesion and segregation
Disease
H00269  Primary microcephaly
Reference
PMID:20101680
  Authors
Farooq M, Baig S, Tommerup N, Kjaer KW
  Title
Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal  condensation syndrome and primary autosomal recessive microcephaly type 1.
  Journal
Am J Med Genet A 152A:495-7 (2010)
DOI:10.1002/ajmg.a.33234
Reference
PMID:16434882
  Authors
Trimborn M, Schindler D, Neitzel H, Hirano T
  Title
Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II.
  Journal
Cell Cycle 5:322-6 (2006)
DOI:10.4161/cc.5.3.2412
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