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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2010
Schlagworte:
Article
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge