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Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome
Author(s) -
Au Patrick K. C.,
Kwok Yvonne K. Y.,
Leung K. Y.,
Tang Linda Y. F.,
Tang Mary H. Y.,
Lau Elizabeth T.
Publication year - 2011
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.2672
Subject(s) - apert syndrome , mutation , pregnancy , fibroblast growth factor receptor 2 , fetus , receptor , medicine , obstetrics , fibroblast growth factor , genetics , andrology , biology , gene , craniosynostosis
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