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A c.1019A > G mutation in FGFR2 , which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia
Author(s) -
Baynam Gareth,
Smith Nicholas,
Goldblatt Jack
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32443
Subject(s) - mutation , fetus , genetics , biology , pregnancy , gene