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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.

Abstract:

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 origin of mutation and elevated paternal age ("paternal age effect"). However, even if this is the major mode of origin of mutations in paternal age-effect disorders, germline mosaicism may also occu...

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Publication status:
Published

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Publisher copy:
10.1002/ajmg.a.33513

Authors


Goriely, A More by this author
Johnson, D More by this author
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Journal:
American journal of medical genetics. Part A
Volume:
152A
Issue:
8
Pages:
2067-2073
Publication date:
2010-08-05
DOI:
EISSN:
1552-4833
ISSN:
1552-4825
URN:
uuid:4b5e1ac6-c6f8-4750-bf39-c04b2d6c6360
Source identifiers:
119498
Local pid:
pubs:119498

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