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MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
Eldomery, Mohammad K; Akdemir, Zeynep C; Vögtle, F-Nora; Charng, Wu-Lin; Mulica, Patrycja; Rosenfeld, Jill A; Gambin, Tomasz; Gu, Shen; Burrage, Lindsay C; Al Shamsi, Aisha; Penney, Samantha; Jhangiani, Shalini N; Zimmerman, Holly H; Muzny, Donna M; Wang, Xia; Tang, Jia; Medikonda, Ravi; Ramachandran, Prasanna V; Wong, Lee-Jun; Boerwinkle, Eric; Gibbs, Richard A; Eng, Christine M; Lalani, Seema R; Hertecant, Jozef; Rodenburg, Richard J; Abdul-Rahman, Omar A; Yang, Yaping; Xia, Fan; Wang, Meng C; Lupski, James R; Meisinger, Chris; Sutton, V Reid.
Afiliação
  • Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Vögtle FN; Institute of Biochemistry and Molecular Biology, ZBMZ and BIOSS Centre for Biological Signalling Studies and Faculty of Medicine, University of Freiburg, 79104, Freiburg, Germany.
  • Charng WL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Mulica P; Institute of Biochemistry and Molecular Biology, ZBMZ and BIOSS Centre for Biological Signalling Studies and Faculty of Medicine, University of Freiburg, 79104, Freiburg, Germany.
  • Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Gambin T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Gu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Al Shamsi A; Texas Children's Hospital, Houston, TX, 77030, USA.
  • Penney S; Department of Pediatrics, Tawam Hospital, Al Ain, 15258, United Arab Emirates.
  • Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Zimmerman HH; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Muzny DM; Department of Pediatrics, University of Mississippi Medical Center, 2500N State St, Jackson, MS, 39216, USA.
  • Wang X; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Tang J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Medikonda R; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Ramachandran PV; Medical Genetics Center, Jiang Men Maternity and Childhealth Care Hospital, Jiang Men, 529000, China.
  • Wong LJ; Huffington Center on Aging, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Boerwinkle E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Gibbs RA; Huffington Center on Aging, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Lalani SR; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Hertecant J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Rodenburg RJ; Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, 77030, USA.
  • Abdul-Rahman OA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Yang Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Wang MC; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
  • Meisinger C; Texas Children's Hospital, Houston, TX, 77030, USA.
  • Sutton VR; Department of Pediatrics, Tawam Hospital, Al Ain, 15258, United Arab Emirates.
Genome Med ; 8(1): 106, 2016 11 01.
Article em En | MEDLINE | ID: mdl-27799064
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Morte Súbita do Lactente / Metaloendopeptidases / Genes Recessivos / Cardiopatias Congênitas / Hipotonia Muscular Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Genome Med Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Morte Súbita do Lactente / Metaloendopeptidases / Genes Recessivos / Cardiopatias Congênitas / Hipotonia Muscular Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Genome Med Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos