Portal de Periódicos da CAPES

An intronic mutation in DKC1 in an infant with Høyeraal–Hreidarsson syndrome

2008; Wiley; Volume: 146A; Issue: 16 Linguagem: Inglês

10.1002/ajmg.a.32412

1552-4833

Toni S. Pearson, Fiona K. Curtis, Ayman Al‐Eyadhy, Salem Al‐Tamemi, Bruce Mazer, Yigal Dror, Sharon Abish, Sherri J. Bale, John G. Compton, Reena Ray, Patrick Scott, Vazken M. Der Kaloustian,

Hedgehog Signaling Pathway Studies

American Journal of Medical Genetics Part AVolume 146A, Issue 16 p. 2159-2161 Research Letter An intronic mutation in DKC1 in an infant with Høyeraal–Hreidarsson syndrome† Toni Pearson, Toni Pearson The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, CanadaSearch for more papers by this authorFiona Curtis, Fiona Curtis Departments of Human Genetics and Medical Genetics, McGill University, McGill University Health Center, Montreal, Quebec, CanadaSearch for more papers by this authorAyman Al-Eyadhy, Ayman Al-Eyadhy The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, CanadaSearch for more papers by this authorSalem Al-Tamemi, Salem Al-Tamemi The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, CanadaSearch for more papers by this authorBruce Mazer, Bruce Mazer The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, CanadaSearch for more papers by this authorYigal Dror, Yigal Dror Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorSharon Abish, Sharon Abish The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, CanadaSearch for more papers by this authorSherri Bale, Sherri Bale GeneDx., Inc, Gaithersburg, MarylandSearch for more papers by this authorJohn Compton, John Compton Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorReena Ray, Reena Ray Clinical Biochemistry and Genetics Diagnostic Services of Manitoba, Winnipeg, Manitoba, CanadaSearch for more papers by this authorPatrick Scott, Patrick Scott The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, Canada Departments of Human Genetics and Medical Genetics, McGill University, McGill University Health Center, Montreal, Quebec, CanadaSearch for more papers by this authorVazken M. Der Kaloustian, Corresponding Author Vazken M. Der Kaloustian vazken.derkaloustian@mcgill.ca The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, Canada Departments of Human Genetics and Medical Genetics, McGill University, McGill University Health Center, Montreal, Quebec, CanadaThe F. Clarke Fraser Clinical Genetics Unit, Montreal Children's Hospital, 2300 Tupper Street, Montreal, Quebec, Canada H3H 1P3.Search for more papers by this author Toni Pearson, Toni Pearson The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, CanadaSearch for more papers by this authorFiona Curtis, Fiona Curtis Departments of Human Genetics and Medical Genetics, McGill University, McGill University Health Center, Montreal, Quebec, CanadaSearch for more papers by this authorAyman Al-Eyadhy, Ayman Al-Eyadhy The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, CanadaSearch for more papers by this authorSalem Al-Tamemi, Salem Al-Tamemi The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, CanadaSearch for more papers by this authorBruce Mazer, Bruce Mazer The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, CanadaSearch for more papers by this authorYigal Dror, Yigal Dror Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorSharon Abish, Sharon Abish The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, CanadaSearch for more papers by this authorSherri Bale, Sherri Bale GeneDx., Inc, Gaithersburg, MarylandSearch for more papers by this authorJohn Compton, John Compton Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorReena Ray, Reena Ray Clinical Biochemistry and Genetics Diagnostic Services of Manitoba, Winnipeg, Manitoba, CanadaSearch for more papers by this authorPatrick Scott, Patrick Scott The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, Canada Departments of Human Genetics and Medical Genetics, McGill University, McGill University Health Center, Montreal, Quebec, CanadaSearch for more papers by this authorVazken M. Der Kaloustian, Corresponding Author Vazken M. Der Kaloustian vazken.derkaloustian@mcgill.ca The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, Canada Departments of Human Genetics and Medical Genetics, McGill University, McGill University Health Center, Montreal, Quebec, CanadaThe F. Clarke Fraser Clinical Genetics Unit, Montreal Children's Hospital, 2300 Tupper Street, Montreal, Quebec, Canada H3H 1P3.Search for more papers by this author First published: 14 July 2008 https://doi.org/10.1002/ajmg.a.32412Citations: 17 † How to cite this article: Pearson T, Curtis F, Al-Eyadhy A, Al-Tamemi S, Mazer B, Dror Y, Abish S, Bale S, Compton J, Ray R, Scott P, Der Kaloustian VM. 2008. An intronic mutation in DKC1 in an infant with Høyeraal–Hreidarsson syndrome. Am J Med Genet Part A 146A:2159–2161. 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 onFacebookTwitterLinked InRedditWechat Citing Literature Volume146A, Issue1615 August 2008Pages 2159-2161 RelatedInformation