Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Meier-Gorlin syndrome (ear, patella, short stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterised by absent/hypoplastic patellae and markedly small ears1-3. Both pre and post-natal growth are impaired in this disorder and although microcephaly is often evident, intell...

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Κύριοι συγγραφείς: Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A. J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael, Jackson, Andrew P.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2011
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Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3068194/
https://ncbi.nlm.nih.gov/pubmed/21358632
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.775
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