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.
Farooq
Muhammad
M
Department of Cellular and Molecular Medicine, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.
Baig
Shahid
S
Tommerup
Niels
N
Kjaer
Klaus W
KW
D000483:Alleles; D000818:Animals; D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D002869:Chromosome Aberrations; D019457:Chromosome Breakage; D002875:Chromosomes / Q000648:ultrastructure; D003398:Craniosynostoses / Q000235:genetics*; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D006801:Humans; D051379:Mice; D008831:Microcephaly / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype
D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D003598:Cytoskeletal Proteins; C460645:MCPH1 protein, human; C547654:MCPH1 protein, mouse; D009419:Nerve Tissue Proteins