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Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation‐negative patient with clinically diagnosed Alagille syndrome

2015; Wiley; Volume: 167; Issue: 4 Linguagem: Inglês

10.1002/ajmg.a.36946

1552-4833

Christopher M. Grochowski, Ramakrishnan Rajagopalan, Alexandra M. Falsey, Kathleen M. Loomes, David A. Piccoli, Ian D. Krantz, Marcella Devoto, Nancy B. Spinner,

Cholangiocarcinoma and Gallbladder Cancer Studies

American Journal of Medical Genetics Part AVolume 167, Issue 4 p. 891-893 Research Letter Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome Christopher M. Grochowski, Corresponding Author Christopher M. Grochowski Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Correspondence to: Christopher M. Grochowski, The Children's Hospital of Philadelphia, Pathology and Laboratory Medicine, 3615 Civic Center Blvd Abramson Research Center Lab 1012, Philadelphia, PA 19104-4302. E-mail: grochowskic@email.chop.eduSearch for more papers by this authorRamakrishnan Rajagopalan, Ramakrishnan Rajagopalan Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PennsylvaniaSearch for more papers by this authorAlexandra M. Falsey, Alexandra M. Falsey Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PennsylvaniaSearch for more papers by this authorKathleen M. Loomes, Kathleen M. Loomes Division of Pediatric Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PennsylvaniaSearch for more papers by this authorDavid A. Piccoli, David A. Piccoli Division of Pediatric Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PennsylvaniaSearch for more papers by this authorIan D. Krantz, Ian D. Krantz Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PennsylvaniaSearch for more papers by this authorMarcella Devoto, Marcella Devoto Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania Department of Molecular Medicine, University La Sapienza, Rome, ItalySearch for more papers by this authorNancy B. Spinner, Nancy B. Spinner Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PennsylvaniaSearch for more papers by this author Christopher M. Grochowski, Corresponding Author Christopher M. Grochowski Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Correspondence to: Christopher M. Grochowski, The Children's Hospital of Philadelphia, Pathology and Laboratory Medicine, 3615 Civic Center Blvd Abramson Research Center Lab 1012, Philadelphia, PA 19104-4302. E-mail: grochowskic@email.chop.eduSearch for more papers by this authorRamakrishnan Rajagopalan, Ramakrishnan Rajagopalan Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PennsylvaniaSearch for more papers by this authorAlexandra M. Falsey, Alexandra M. Falsey Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PennsylvaniaSearch for more papers by this authorKathleen M. Loomes, Kathleen M. Loomes Division of Pediatric Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PennsylvaniaSearch for more papers by this authorDavid A. Piccoli, David A. Piccoli Division of Pediatric Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PennsylvaniaSearch for more papers by this authorIan D. Krantz, Ian D. Krantz Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PennsylvaniaSearch for more papers by this authorMarcella Devoto, Marcella Devoto Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania Department of Molecular Medicine, University La Sapienza, Rome, ItalySearch for more papers by this authorNancy B. Spinner, Nancy B. Spinner Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PennsylvaniaSearch for more papers by this author First published: 03 March 2015 https://doi.org/10.1002/ajmg.a.36946Citations: 9 Conflict of Interest: none. 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 No abstract is available for this article.Citing Literature Volume167, Issue4April 2015Pages 891-893 RelatedInformation