Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

Esther Meyer; Derek Lim; Shanaz Pasha; Louise J. Tee; Fatimah Rahman; John R. W. Yates; C. Geoffrey Woods; Wolf Reik; Eamonn R. Maher

doi:10.1371/journal.pgen.1000423

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Open Access

Peer-reviewed

Research Article

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

Esther Meyer,

Affiliation Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, United Kingdom
⨯
Derek Lim,

Affiliations Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, United Kingdom, West Midlands Regional Genetics Service, Birmingham Women's Hospital, Edgbaston, Birmingham, United Kingdom
⨯
Shanaz Pasha,

Affiliation Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, United Kingdom
⨯
Louise J. Tee,

Affiliation Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, United Kingdom
⨯
Fatimah Rahman,

Affiliation Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, United Kingdom
⨯
John R. W. Yates,

Affiliations Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom, Institute for Medical Research, Addenbrooke's Hospital, Cambridge, United Kingdom, East Anglian Medical Genetics Service, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, United Kingdom
⨯
C. Geoffrey Woods,

Affiliations Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom, Institute for Medical Research, Addenbrooke's Hospital, Cambridge, United Kingdom, East Anglian Medical Genetics Service, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge, United Kingdom
⨯
Wolf Reik,

Affiliations Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Cambridge, United Kingdom, Centre for Trophoblast Research, University of Cambridge, Cambridge, United Kingdom
⨯
Eamonn R. Maher

* E-mail: e.r.maher@bham.ac.uk

Affiliations Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, United Kingdom, West Midlands Regional Genetics Service, Birmingham Women's Hospital, Edgbaston, Birmingham, United Kingdom
⨯

Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

Esther Meyer,
Derek Lim,
Shanaz Pasha,
Louise J. Tee,
Fatimah Rahman,
John R. W. Yates,
C. Geoffrey Woods,
Wolf Reik,
Eamonn R. Maher

Published: March 20, 2009
https://doi.org/10.1371/journal.pgen.1000423

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Genomic imprinting
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Beckwith-Wiedemann syndrome
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DNA methylation
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Frameshift mutation
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Homozygosity
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Methylation
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Disorders of imprinting
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Mutation detection
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