Severe hypodontia and oral xanthomas in Alagille syndrome

医学遗传学 医学 家庭医学 老年学 图书馆学 遗传学 生物 计算机科学 基因
作者
Nicola C. Ho,Felicitas Lacbawan,Clair A. Francomano,Victor Ho
出处
期刊:American journal of medical genetics [Wiley]
卷期号:93 (3): 250-252 被引量:18
标识
DOI:10.1002/1096-8628(20000731)93:3<250::aid-ajmg18>3.0.co;2-a
摘要

American Journal of Medical GeneticsVolume 93, Issue 3 p. 250-252 Letter to the Editor Severe hypodontia and oral xanthomas in Alagille syndrome† Nicola C. Ho, Corresponding Author Nicola C. Ho [email protected] Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MarylandMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, Maryland.Search for more papers by this authorFelicitas Lacbawan, Felicitas Lacbawan Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MarylandSearch for more papers by this authorClair A. Francomano, Clair A. Francomano Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MarylandSearch for more papers by this authorVictor Ho, Victor Ho Department of Oral Pathology, National University of Singapore, SingaporeSearch for more papers by this author Nicola C. Ho, Corresponding Author Nicola C. Ho [email protected] Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MarylandMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, Maryland.Search for more papers by this authorFelicitas Lacbawan, Felicitas Lacbawan Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MarylandSearch for more papers by this authorClair A. Francomano, Clair A. Francomano Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MarylandSearch for more papers by this authorVictor Ho, Victor Ho Department of Oral Pathology, National University of Singapore, SingaporeSearch for more papers by this author First published: 28 July 2000 https://doi.org/10.1002/1096-8628(20000731)93:3<250::AID-AJMG18>3.0.CO;2-ACitations: 16 † This article was prepared by a group consisting of both United States government and non-United States government empoloyees, and as such is subject to 17 U.S.C. sec. 105. 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 No abstract is available for this article. REFERENCES Alagille D, Estrada A, Hadchouel M. 1987. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr 119: 195–200. 10.1016/S0022-3476(87)80153-1 Web of Science®Google Scholar Buckley DA, Higgins EM, du Vivier AWP. 1998. Resolution of xanthomas in Alagille syndrome after liver transplantation. 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Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization. Am J Med Genet 70: 80–86. 10.1002/(SICI)1096-8628(19970502)70:1<80::AID-AJMG15>3.0.CO;2-T CASPubMedWeb of Science®Google Scholar Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Wen LK, Cochran J, Costa T, Pierpont MEM, Rand EB, Piccoli DA, Hood L, Spinner NB. 1997. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16: 243–251. 10.1038/ng0797-243 CASPubMedWeb of Science®Google Scholar Linsell CE, Shawber CJ, Boulter J, Weinmaster G. 1995. Jagged: a mammalian ligand that activates Notch 1. Cell 80: 909–917. 10.1016/0092-8674(95)90294-5 PubMedWeb of Science®Google Scholar Moreno Gimenez JC, Del Rio Mapelli L, Camacho Martinez F. 1984. Le syndrome d'Alagille. Etude clinique et histopathologique. Ann Dermatol Vénéréol 111: 225–229. CASPubMedGoogle Scholar Neville BW, Weathers DR. 1980. Verrucifom xanthoma. Oral Surg 49: 429–434. 10.1016/0030-4220(80)90287-X PubMedWeb of Science®Google Scholar Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. 1997. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 16: 235–242. 10.1038/ng0797-235 CASPubMedWeb of Science®Google Scholar Ong E, Williams SM, Anderson JC, Kaplan PA. 1986. MR imaging of a hepatoma associated with Alagille syndrome. J Comput Assist Tomogr 10: 1047–1049. 10.1097/00004728-198611000-00032 CASPubMedWeb of Science®Google Scholar Polonowita AD, Firth A, Rich AM. 1999. Verrucifom xanthoma and concomitant lichen planus of the oral mucosa. Int J Oral Maxillofac Surg 28: 62–66. 10.1016/S0901-5027(99)80682-1 CASPubMedWeb of Science®Google Scholar Schnittger S, Hofers C, Heidermann P, Beermann F, Hansmann I. 1989. Molecular and cytogenetic analysis of an interstitial 20p deletion associated with syndromic intrahepatic ductular hypoplasia (Alagille syndrome). Hum Genet 83: 239–244. 10.1007/BF00285164 CASPubMedWeb of Science®Google Scholar Citing Literature Volume93, Issue331 July 2000Pages 250-252 ReferencesRelatedInformation
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