CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome
2009; Wiley; Volume: 152A; Issue: 1 Linguagem: Inglês
10.1002/ajmg.a.33168
ISSN1552-4833
AutoresNoriko Miyake, Caroline Andrews, Wen Fan, Wei He, Wai‐Man Chan, Elizabeth C. Engle,
Tópico(s)Prenatal Screening and Diagnostics
ResumoAmerican Journal of Medical Genetics Part AVolume 152A, Issue 1 p. 215-217 Research Letter CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome† Noriko Miyake, Noriko Miyake Department of Neurology, Children's Hospital Boston, Boston, Massachusetts Department of Medicine (Genetics), Children's Hospital Boston, Boston, MassachusettsSearch for more papers by this authorCaroline Andrews, Caroline Andrews Department of Neurology, Children's Hospital Boston, Boston, Massachusetts Department of Neurology, Harvard Medical School, Boston, Massachusetts Howard Hughes Medical Institute, Chevy Chase, MarylandSearch for more papers by this authorWen Fan, Wen Fan Program in Neuroscience, Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorWei He, Wei He Department of Neurology, Children's Hospital Boston, Boston, MassachusettsSearch for more papers by this authorWai-Man Chan, Wai-Man Chan Department of Neurology, Children's Hospital Boston, Boston, Massachusetts Howard Hughes Medical Institute, Chevy Chase, MarylandSearch for more papers by this authorElizabeth C. Engle, Corresponding Author Elizabeth C. Engle [email protected] Department of Neurology, Children's Hospital Boston, Boston, Massachusetts Department of Medicine (Genetics), Children's Hospital Boston, Boston, Massachusetts Department of Neurology, Harvard Medical School, Boston, Massachusetts Howard Hughes Medical Institute, Chevy Chase, Maryland Program in Neuroscience, Harvard Medical School, Boston, Massachusetts Department of Ophthalmology, Children's Hospital Boston, Boston, Massachusetts FB Kirby Neurobiology Center, Children's Hospital Boston, Boston, Massachusetts Program in Genomics, Children's Hospital Boston, Boston, Massachusetts Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MassachusettsCLS14075, Children's Hospital Boston, 300 Longwood Ave., Boston, MA 02115.Search for more papers by this author Noriko Miyake, Noriko Miyake Department of Neurology, Children's Hospital Boston, Boston, Massachusetts Department of Medicine (Genetics), Children's Hospital Boston, Boston, MassachusettsSearch for more papers by this authorCaroline Andrews, Caroline Andrews Department of Neurology, Children's Hospital Boston, Boston, Massachusetts Department of Neurology, Harvard Medical School, Boston, Massachusetts Howard Hughes Medical Institute, Chevy Chase, MarylandSearch for more papers by this authorWen Fan, Wen Fan Program in Neuroscience, Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorWei He, Wei He Department of Neurology, Children's Hospital Boston, Boston, MassachusettsSearch for more papers by this authorWai-Man Chan, Wai-Man Chan Department of Neurology, Children's Hospital Boston, Boston, Massachusetts Howard Hughes Medical Institute, Chevy Chase, MarylandSearch for more papers by this authorElizabeth C. Engle, Corresponding Author Elizabeth C. Engle [email protected] Department of Neurology, Children's Hospital Boston, Boston, Massachusetts Department of Medicine (Genetics), Children's Hospital Boston, Boston, Massachusetts Department of Neurology, Harvard Medical School, Boston, Massachusetts Howard Hughes Medical Institute, Chevy Chase, Maryland Program in Neuroscience, Harvard Medical School, Boston, Massachusetts Department of Ophthalmology, Children's Hospital Boston, Boston, Massachusetts FB Kirby Neurobiology Center, Children's Hospital Boston, Boston, Massachusetts Program in Genomics, Children's Hospital Boston, Boston, Massachusetts Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MassachusettsCLS14075, Children's Hospital Boston, 300 Longwood Ave., Boston, MA 02115.Search for more papers by this author First published: 23 December 2009 https://doi.org/10.1002/ajmg.a.33168Citations: 17 † How to Cite this Article: Miyake N, Andrews C, Fan W, He W, Chan W-M, Engle EC. 2010. CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. Am J Med Genet Part A 152A:215–217. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. 2002. Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet 71: 1195–1199. 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Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan WM, Andrews C, Erickson RP, Engle EC. 2005. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet 37: 1035–1037. Tischfield MA, Chan WM, Grunert JF, Andrews C, Engle EC. 2006. HOXA1 mutations are not a common cause of Duane anomaly. Am J Med Genet Part A 140A: 900–902. Wabbels BK, Lorenz B, Kohlhase J. 2004. No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" (DURS). Am J Med Genet Part A 131A: 216–218. Citing Literature Volume152A, Issue1January 2010Pages 215-217 ReferencesRelatedInformation
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