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Am J Med Genet A. 2010 Feb;152A(2):495-7. doi: 10.1002/ajmg.a.33234.

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.

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1
Department of Cellular and Molecular Medicine, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.
PMID:
20101680
DOI:
10.1002/ajmg.a.33234
[Indexed for MEDLINE]
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