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A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX

2011; Wiley; Volume: 155; Issue: 4 Linguagem: Inglês

10.1002/ajmg.a.33872

1552-4833

Sara Benito‐Sanz, Ángel Aragonés, R Gracia, Ángel Campos‐Barros, Karen E. Heath,

Genomic variations and chromosomal abnormalities

American Journal of Medical Genetics Part AVolume 155, Issue 4 p. 935-937 Correspondence A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX† S. Benito-Sanz, S. Benito-Sanz Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, SpainSearch for more papers by this authorA. Aragones, A. Aragones Department of Pediatrics, Hospital Virgen de la Salud, Toledo, SpainSearch for more papers by this authorR. Gracia, R. Gracia Department of Pediatric Endocrinology, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, SpainSearch for more papers by this authorA. Campos-Barros, A. Campos-Barros Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, SpainSearch for more papers by this authorK.E. Heath, Corresponding Author K.E. Heath [email protected] Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, SpainInstituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, P°Castellana 261, 28046 Madrid, Spain.Search for more papers by this author S. Benito-Sanz, S. Benito-Sanz Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, SpainSearch for more papers by this authorA. Aragones, A. Aragones Department of Pediatrics, Hospital Virgen de la Salud, Toledo, SpainSearch for more papers by this authorR. Gracia, R. Gracia Department of Pediatric Endocrinology, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, SpainSearch for more papers by this authorA. Campos-Barros, A. Campos-Barros Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, SpainSearch for more papers by this authorK.E. Heath, Corresponding Author K.E. Heath [email protected] Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, SpainInstituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, P°Castellana 261, 28046 Madrid, Spain.Search for more papers by this author First published: 17 March 2011 https://doi.org/10.1002/ajmg.a.33872Citations: 6 † How to Cite this Article: Benito-Sanz S, Aragones A, Gracia R, Campos-Barros A, Heath KE. 2011. A non-pathogenic pseudoautosomal region 1 copy number variant downstream of SHOX. Am J Med Genet Part A 155:935–937. 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 Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE. 2010. Clinical and molecular evaluation of SHOX/PAR1 duplications in Léri–Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). J Clin Endocrinol Metab, Dec 8 (E pub ahead of print) PMID 21147883. Fukami M, Kato F, Tajima T, Yokoya S, Ogata T. 2006. 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A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet 39: 1245–1250. Citing Literature Volume155, Issue4April 2011Pages 935-937 ReferencesRelatedInformation