DOI: 10.1038/ng1992. A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

10.1038/ng1992

Crossref journal-article

Springer Science and Business Media LLC

Nature Genetics (297)

Bibliography

Risheg, H., Graham, J. M., Clark, R. D., Rogers, R. C., Opitz, J. M., Moeschler, J. B., Peiffer, A. P., May, M., Joseph, S. M., Jones, J. R., Stevenson, R. E., Schwartz, C. E., & Friez, M. J. (2007). A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. Nature Genetics, 39(4), 451â453.

Authors 13

Hiba Risheg (first)
John M Graham (additional)
Robin D Clark (additional)
R Curtis Rogers (additional)
John M Opitz (additional)
John B Moeschler (additional)
Andreas P Peiffer (additional)
Melanie May (additional)
Sumy M Joseph (additional)
Julie R Jones (additional)
Roger E Stevenson (additional)
Charles E Schwartz (additional)
Michael J Friez (additional)

References 15 Referenced 162

Kleefstra, T. et al. Clin. Genet. 67, 451–467 (2005). (10.1111/j.1399-0004.2005.00434.x) / Clin. Genet. by T Kleefstra (2005)
Opitz, J.M. et al. Z. Kinderheilkd. 117, 1–18 (1974). (10.1007/BF00439020) / Z. Kinderheilkd. by JM Opitz (1974)
Philibert, R.A. et al. Mol. Psychiatry 3, 303–309 (1998). (10.1038/sj.mp.4000442) / Mol. Psychiatry by RA Philibert (1998)
Friez, M.J. et al. Hum. Genet. 106, 36–39 (2000). (10.1007/s004390051006) / Hum. Genet. by MJ Friez (2000)
Beyer, K.S. et al. Am. J. Med. Genet. 114, 110–115 (2002). (10.1002/ajmg.1613) / Am. J. Med. Genet. by KS Beyer (2002)
Schwartz, C.E. et al. Am. J. Hum. Genet. 77, 41–53 (2005). (10.1086/431313) / Am. J. Hum. Genet. by CE Schwartz (2005)
Janody, F. et al. Development 130, 3691–3701 (2003). (10.1242/dev.00607) / Development by F Janody (2003)
Hong, S.K. et al. Proc. Natl. Acad. Sci. USA 102, 18473–18478 (2005). (10.1073/pnas.0509457102) / Proc. Natl. Acad. Sci. USA by SK Hong (2005)
Rau, M.J. et al. Dev. Biol. 296, 83–93 (2006). (10.1016/j.ydbio.2006.04.437) / Dev. Biol. by MJ Rau (2006)
Wang, X. et al. Proc. Natl. Acad. Sci. USA 103, 17284–17289 (2006). (10.1073/pnas.0605414103) / Proc. Natl. Acad. Sci. USA by X Wang (2006)
Zhou, H. et al. Mol. Cell. Biol. 26, 8667–8682 (2006). (10.1128/MCB.00443-06) / Mol. Cell. Biol. by H Zhou (2006)
Kim, S. et al. J. Biol. Chem. 281, 14066–14075 (2006). (10.1074/jbc.M602696200) / J. Biol. Chem. by S Kim (2006)
Lehner, B. et al. Nat. Genet. 38, 896–903 (2006). (10.1038/ng1844) / Nat. Genet. by B Lehner (2006)
Briault, S. et al. Am. J. Med. Genet. 73, 87–90 (1997). (10.1002/(SICI)1096-8628(19971128)73:1<87::AID-AJMG17>3.0.CO;2-N) / Am. J. Med. Genet. by S Briault (1997)
Battaglia, A. et al. Am. J. Med. Genet. A. 140, 2075–2079 (2006). (10.1002/ajmg.a.31302) / Am. J. Med. Genet. A. by A Battaglia (2006)

Dates

Type	When
Created	18 years, 5 months ago (March 4, 2007, 12:59 p.m.)
Deposited	2 years, 3 months ago (May 18, 2023, 6:13 p.m.)
Indexed	15 hours, 53 minutes ago (Sept. 3, 2025, 6:08 a.m.)
Issued	18 years, 5 months ago (March 4, 2007)
Published	18 years, 5 months ago (March 4, 2007)
Published Online	18 years, 5 months ago (March 4, 2007)
Published Print	18 years, 5 months ago (April 1, 2007)

Funders 0

None

BibTeX

@article{Risheg_2007, title={A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome}, volume={39}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng1992}, DOI={10.1038/ng1992}, number={4}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Risheg, Hiba and Graham, John M and Clark, Robin D and Rogers, R Curtis and Opitz, John M and Moeschler, John B and Peiffer, Andreas P and May, Melanie and Joseph, Sumy M and Jones, Julie R and Stevenson, Roger E and Schwartz, Charles E and Friez, Michael J}, year={2007}, month=mar, pages={451–453} }

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