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Small bowel malrotation in distal 15q duplication: evidence for a rare association.

作者信息

McLaughlin Brooke M, Hufnagel Robert B, Saal Howard M

机构信息

aGenetic Counseling Program, University of Cincinnati College of Medicine bDepartment of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

出版信息

Clin Dysmorphol. 2015 Apr;24(2):65-7. doi: 10.1097/MCD.0000000000000063.

Abstract
摘要

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本文引用的文献

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Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature review.
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A 4.5 Mb terminal deletion of chromosome 12p helps further define a psychosis-associated locus.
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Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism.
Am J Med Genet A. 2012 Jun;158A(6):1452-4. doi: 10.1002/ajmg.a.35354. Epub 2012 May 14.
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Megacystis, megacolon, and malrotation: a new syndromic association?
Am J Med Genet A. 2011 Aug;155A(8):1798-802. doi: 10.1002/ajmg.a.34119. Epub 2011 Jul 7.
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A girl with 15q overgrowth syndrome and dup(15)(q24q26.3) that included telomeric sequences.
Korean J Lab Med. 2010 Jun;30(3):318-24. doi: 10.3343/kjlm.2010.30.3.318.
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Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects.
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