Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes

Crouzon syndrome is a dominantly inherited disorder characterized by craniosynostosis and facial dysostosis, caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene; it belongs to a class of disorders that mostly arise as de novo mutations and exhibit a near-exclusive paternal or...

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Bibliografiska uppgifter
Huvudupphovsmän: Goriely, Anne, Lord, Helen, Lim, Jasmine, Johnson, David, Lester, Tracy, Firth, Helen V, Wilkie, Andrew OM
Materialtyp: Artigo
Språk:Inglês
Publicerad: Wiley Subscription Services, Inc., A Wiley Company 2010
Ämnen:
Clinical Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2988406/
https://ncbi.nlm.nih.gov/pubmed/20635358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33513
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