Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D
2008; Wiley; Volume: 149A; Issue: 4 Linguagem: Inglês
10.1002/ajmg.a.32335
ISSN1552-4833
AutoresHideo Kuniba, Ritsuko Pooh, Kensaku Sasaki, Osamu Shimokawa, Naoki Harada, Tatsuro Kondoh, Masanori Egashira, Hiroyuki Moriuchi, Koh‐ichiro Yoshiura, Norio Niikawa,
Tópico(s)Lysosomal Storage Disorders Research
ResumoAmerican Journal of Medical Genetics Part AVolume 149A, Issue 4 p. 785-787 Research Letter Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D† Hideo Kuniba, Corresponding Author Hideo Kuniba kuniba03@nifty.com Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanDepartment of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1-12-4, Nagasaki 852-8523, Japan.Search for more papers by this authorRitsuko K. Pooh, Ritsuko K. Pooh CRIFM Clinical Research Institute of Fetal Medicine PMC, Osaka, JapanSearch for more papers by this authorKensaku Sasaki, Kensaku Sasaki Kyushu Medical Science Nagasaki Laboratory (KMS), Nagasaki, JapanSearch for more papers by this authorOsamu Shimokawa, Osamu Shimokawa Kyushu Medical Science Nagasaki Laboratory (KMS), Nagasaki, JapanSearch for more papers by this authorNaoki Harada, Naoki Harada Kyushu Medical Science Nagasaki Laboratory (KMS), Nagasaki, JapanSearch for more papers by this authorTatsuro Kondoh, Tatsuro Kondoh Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan Department of Clinical Genetics, Misakae-no-sono Mutsumi, Institute for Severe Intellectual/Motor Disabled Persons, Isahaya, JapanSearch for more papers by this authorMasanori Egashira, Masanori Egashira Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanSearch for more papers by this authorHiroyuki Moriuchi, Hiroyuki Moriuchi Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanSearch for more papers by this authorKoh-ichiro Yoshiura, Koh-ichiro Yoshiura Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanSearch for more papers by this authorNorio Niikawa, Norio Niikawa Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Tobetsu, JapanSearch for more papers by this author Hideo Kuniba, Corresponding Author Hideo Kuniba kuniba03@nifty.com Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanDepartment of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1-12-4, Nagasaki 852-8523, Japan.Search for more papers by this authorRitsuko K. Pooh, Ritsuko K. Pooh CRIFM Clinical Research Institute of Fetal Medicine PMC, Osaka, JapanSearch for more papers by this authorKensaku Sasaki, Kensaku Sasaki Kyushu Medical Science Nagasaki Laboratory (KMS), Nagasaki, JapanSearch for more papers by this authorOsamu Shimokawa, Osamu Shimokawa Kyushu Medical Science Nagasaki Laboratory (KMS), Nagasaki, JapanSearch for more papers by this authorNaoki Harada, Naoki Harada Kyushu Medical Science Nagasaki Laboratory (KMS), Nagasaki, JapanSearch for more papers by this authorTatsuro Kondoh, Tatsuro Kondoh Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan Department of Clinical Genetics, Misakae-no-sono Mutsumi, Institute for Severe Intellectual/Motor Disabled Persons, Isahaya, JapanSearch for more papers by this authorMasanori Egashira, Masanori Egashira Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanSearch for more papers by this authorHiroyuki Moriuchi, Hiroyuki Moriuchi Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanSearch for more papers by this authorKoh-ichiro Yoshiura, Koh-ichiro Yoshiura Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanSearch for more papers by this authorNorio Niikawa, Norio Niikawa Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Tobetsu, JapanSearch for more papers by this author First published: 24 March 2009 https://doi.org/10.1002/ajmg.a.32335Citations: 23 † How to cite this article: Kuniba H, Pooh RK, Sasaki K, Shimokawa O, Harada N, Kondoh T, Egashira M, Moriuchi H, Yoshiura K, Niikawa N. 2009. Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation G12D. Am J Med Genet Part A 149A:785–787. 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 Volume149A, Issue4April 2009Pages 785-787 RelatedInformation
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