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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Main Authors: 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.
格式: Artigo
語言:Inglês
出版: 2011
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在線閱讀: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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