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

We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence‐based personalized counseling on transmission risk to future offspring. Using dideoxy sequencing, a low‐level FLNB c.698A>G, encoding p.(Tyr2...

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Detalles Bibliográficos
Autores principales: Bernkopf, Marie, Hunt, David, Koelling, Nils, Morgan, Tim, Collins, Amanda L., Fairhurst, Joanna, Robertson, Stephen P., Douglas, Andrew G. L., Goriely, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638069/
https://www.ncbi.nlm.nih.gov/pubmed/28639312
http://dx.doi.org/10.1002/humu.23281

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638069/
https://www.ncbi.nlm.nih.gov/pubmed/28639312
http://dx.doi.org/10.1002/humu.23281

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