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Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.

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Title: Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Authors: Arts P; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Garland J; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia., Byrne AB; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia., Hardy TSE; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Repromed, Dulwich, Australia.; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia., Babic M; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Feng J; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Wang P; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., Ha T; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia., King-Smith SL; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia., Schreiber AW; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia., Crawford A; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Manton N; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Moore L; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia., Scott HS; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 May; Vol. 182 (5), pp. 1273-1277. Date of Electronic Publication: 2020 Mar 06.
Publication Type: Case Reports; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; 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: Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Arts+P%22">Arts P</searchLink>; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Garland+J%22">Garland J</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Byrne+AB%22">Byrne AB</searchLink>; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Hardy+TSE%22">Hardy TSE</searchLink>; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Repromed, Dulwich, Australia.; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Babic+M%22">Babic M</searchLink>; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Feng+J%22">Feng J</searchLink>; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Wang+P%22">Wang P</searchLink>; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Ha+T%22">Ha T</searchLink>; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22King-Smith+SL%22">King-Smith SL</searchLink>; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Schreiber+AW%22">Schreiber AW</searchLink>; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Crawford+A%22">Crawford A</searchLink>; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Manton+N%22">Manton N</searchLink>; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Moore+L%22">Moore L</searchLink>; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.; Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Barnett+CP%22">Barnett CP</searchLink>; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Scott+HS%22">Scott HS</searchLink>; Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.; School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.; ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.; Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
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