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• W2072801895 abstract "American Journal of Medical Genetics Part AVolume 152A, Issue 8 p. 2115-2119 Research Letter Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood† Kosuke Izumi, Kosuke Izumi Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio Department of Genetics, Case Western Reserve University, Cleveland, Ohio Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, OhioSearch for more papers by this authorMasaki Takagi, Masaki Takagi Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorAditi S. Parikh, Aditi S. Parikh Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio Department of Genetics, Case Western Reserve University, Cleveland, Ohio Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, OhioSearch for more papers by this authorAmanda Hahn, Amanda Hahn Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio Department of Genetics, Case Western Reserve University, Cleveland, OhioSearch for more papers by this authorShana N. Miskovsky, Shana N. Miskovsky Department of Orthopaedic Surgery, University Hospitals Case Medical Center, Cleveland, OhioSearch for more papers by this authorGen Nishimura, Gen Nishimura Department of Radiology, Tokyo Metoropolitan Kiyose Children's Hospital, Tokyo, JapanSearch for more papers by this authorChiharu Torii, Chiharu Torii Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorKenjiro Kosaki, Kenjiro Kosaki Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorTomonobu Hasegawa M.D., Corresponding Author Tomonobu Hasegawa M.D. [email protected] Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan Tomonobu Hasegawa, Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. Derek E. Neilson, Division of Human Genetics, Cincinnati Children's Medical Center, Cincinnati, OH 45229.Search for more papers by this authorDerek E. Neilson M.D., Corresponding Author Derek E. Neilson M.D. [email protected] Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio Department of Genetics, Case Western Reserve University, Cleveland, Ohio Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, Ohio Tomonobu Hasegawa, Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. Derek E. Neilson, Division of Human Genetics, Cincinnati Children's Medical Center, Cincinnati, OH 45229.Search for more papers by this author Kosuke Izumi, Kosuke Izumi Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio Department of Genetics, Case Western Reserve University, Cleveland, Ohio Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, OhioSearch for more papers by this authorMasaki Takagi, Masaki Takagi Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorAditi S. Parikh, Aditi S. Parikh Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio Department of Genetics, Case Western Reserve University, Cleveland, Ohio Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, OhioSearch for more papers by this authorAmanda Hahn, Amanda Hahn Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio Department of Genetics, Case Western Reserve University, Cleveland, OhioSearch for more papers by this authorShana N. Miskovsky, Shana N. Miskovsky Department of Orthopaedic Surgery, University Hospitals Case Medical Center, Cleveland, OhioSearch for more papers by this authorGen Nishimura, Gen Nishimura Department of Radiology, Tokyo Metoropolitan Kiyose Children's Hospital, Tokyo, JapanSearch for more papers by this authorChiharu Torii, Chiharu Torii Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorKenjiro Kosaki, Kenjiro Kosaki Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorTomonobu Hasegawa M.D., Corresponding Author Tomonobu Hasegawa M.D. [email protected] Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan Tomonobu Hasegawa, Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. Derek E. Neilson, Division of Human Genetics, Cincinnati Children's Medical Center, Cincinnati, OH 45229.Search for more papers by this authorDerek E. Neilson M.D., Corresponding Author Derek E. Neilson M.D. [email protected] Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio Department of Genetics, Case Western Reserve University, Cleveland, Ohio Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, Ohio Tomonobu Hasegawa, Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. Derek E. Neilson, Division of Human Genetics, Cincinnati Children's Medical Center, Cincinnati, OH 45229.Search for more papers by this author First published: 20 July 2010 https://doi.org/10.1002/ajmg.a.33511Citations: 11 † How to Cite this Article: Izumi K, Takagi M, Parikh AS, Hahn A, Miskovsky SN, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE. 2010. Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood. Am J Med Genet Part A 152A:2120–2122. 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 REFERENCES Collins FS, Brooks LD, Chakravarti A. 1998. A DNA polymorphism discovery resource for research on human genetic variation. Genome Res 8: 1229– 1231. Cope R, Beals RK, Bennett RM. 1986. The trichorhinophalangeal dysplasia syndrome: Report of eight kindreds, with emphasis on hip complications, late presentations, and premature osteoarthrosis. 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