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Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

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Title: Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
Authors: Ji J; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California., Quindipan C; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California., Parham D; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California.; Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California., Shen L; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California., Ruble D; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California., Bootwalla M; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California., Maglinte DT; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California., Gai X; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California., Saitta SC; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California., Biegel JA; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California., Mascarenhas L; Children's Center for Cancer and Blood Diseases, Children's Hospital Los Angeles, Los Angeles, California.; Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2017 May; Vol. 173 (5), pp. 1390-1395. Date of Electronic Publication: 2017 Mar 28.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
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  Data: <searchLink fieldCode="AU" term="%22Ji+J%22">Ji J</searchLink>; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California.<br /><searchLink fieldCode="AU" term="%22Quindipan+C%22">Quindipan C</searchLink>; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.<br /><searchLink fieldCode="AU" term="%22Parham+D%22">Parham D</searchLink>; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California.; Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California.<br /><searchLink fieldCode="AU" term="%22Shen+L%22">Shen L</searchLink>; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.<br /><searchLink fieldCode="AU" term="%22Ruble+D%22">Ruble D</searchLink>; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.<br /><searchLink fieldCode="AU" term="%22Bootwalla+M%22">Bootwalla M</searchLink>; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.<br /><searchLink fieldCode="AU" term="%22Maglinte+DT%22">Maglinte DT</searchLink>; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.<br /><searchLink fieldCode="AU" term="%22Gai+X%22">Gai X</searchLink>; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California.<br /><searchLink fieldCode="AU" term="%22Saitta+SC%22">Saitta SC</searchLink>; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California.<br /><searchLink fieldCode="AU" term="%22Biegel+JA%22">Biegel JA</searchLink>; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California.<br /><searchLink fieldCode="AU" term="%22Mascarenhas+L%22">Mascarenhas L</searchLink>; Children's Center for Cancer and Blood Diseases, Children's Hospital Los Angeles, Los Angeles, California.; Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2017 May; Vol. 173 (5), pp. 1390-1395. <i>Date of Electronic Publication: </i>2017 Mar 28.
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        Value: 10.1002/ajmg.a.38184
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              Text: 2017 May
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