Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

Primary microcephaly is a rare condition in which brain size is substantially diminished without other syndromic abnormalities. Seven autosomal loci have been genetically mapped, and the underlying causal genes have been identified for MCPH1, MCPH3, MCPH5, MCPH6, and MCPH7 but not for MCPH2 or MCPH4...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Guernsey, Duane L., Jiang, Haiyan, Hussin, Julie, Arnold, Marc, Bouyakdan, Khalil, Perry, Scott, Babineau-Sturk, Tina, Beis, Jill, Dumas, Nadine, Evans, Susan C., Ferguson, Meghan, Matsuoka, Makoto, Macgillivray, Christine, Nightingale, Mathew, Patry, Lysanne, Rideout, Andrea L., Thomas, Aidan, Orr, Andrew, Hoffmann, Ingrid, Michaud, Jacques L., Awadalla, Philip, Meek, David C., Ludman, Mark, Samuels, Mark E.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2010
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2896783/
https://ncbi.nlm.nih.gov/pubmed/20598275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.06.003
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