PMC Links for OMIM (Select 604267) - PMC

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Items: 2

Select item 34871181.

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

Stephen R.F. Twigg, Deborah Lloyd, Dagan Jenkins, Nursel E. Elçioglu, Christopher D.O. Cooper, Nouriya Al-Sannaa, Ali Annagür, Gabriele Gillessen-Kaesbach, Irina Hüning, Samantha J.L. Knight, Judith A. Goodship, Bernard D. Keavney, Philip L. Beales, Opher Gileadi, Simon J. McGowan, Andrew O.M. Wilkie

Am J Hum Genet. 2012 Nov 2; 91(5): 897–905. doi: 10.1016/j.ajhg.2012.08.027

PMCID:: PMC3487118

Article PDF–623K

Select item 26512672.

Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy

Zhen Zhang, Deanne Alpert, Richard Francis, Bishwanath Chatterjee, Qing Yu, Terry Tansey, Steven L. Sabol, Cheng Cui, Yongli Bai, Maxim Koriabine, Yuko Yoshinaga, Jan-Fang Cheng, Feng Chen, Joel Martin, Wendy Schackwitz, Teresa M. Gunn, Kenneth L. Kramer, Pieter J. De Jong, Len A. Pennacchio, Cecilia W. Lo

Proc Natl Acad Sci U S A. 2009 Mar 3; 106(9): 3219–3224. Published online 2009 Feb 13. doi: 10.1073/pnas.0813400106