Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases-Reference-Cited by-同舟云学术

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

Published:2017-07-06 Issue:10 Volume:38 Page:1360-1364
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bernkopf Marie¹²,Hunt David³,Koelling Nils¹²,Morgan Tim⁴,Collins Amanda L.³,Fairhurst Joanna⁵,Robertson Stephen P.⁴,Douglas Andrew G. L.³⁶,Goriely Anne¹²^ORCID

Affiliation:

1. Clinical Genetics Group; MRC Weatherall Institute of Molecular Medicine; University of Oxford; Oxford United Kingdom

2. Nuffield Department of Clinical Sciences; Radcliffe Department of Medicine; University of Oxford; Oxford United Kingdom

3. Wessex Clinical Genetics Service; University Hospital Southampton NHS Foundation Trust; Southampton United Kingdom

4. Department of Women's and Children's Health; Dunedin School of Medicine; University of Otago; Dunedin New Zealand

5. Paediatric Radiology; University Hospital Southampton NHS Foundation Trust; Southampton United Kingdom

6. Academic Unit of Human Development and Health, Faculty of Medicine; University of Southampton; Southampton United Kingdom

Funder

National Institute for Health Research (NIHR), Oxford Biomedical Research Centre Programme

Wellcome

WIMM Strategic Alliance

Curekids (NZ)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23281/fullpdf

Reference18 articles.

1. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB;Bicknell;Journal of Medical Genetics,2007

2. Mutations in FLNB cause boomerang dysplasia;Bicknell;Journal of Medical Genetics,2005

3. Somatic mosaicism: Implications for disease and transmission genetics;Campbell;Trends in Genetics,2015

4. Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity;Daniel;Human Mutation,2012

5. Asymmetrical Larsen syndrome in a young girl: A second example of somatic mosaicism in this syndrome;Debeer;Genetic Counseling,2003

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