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A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly
Author(s) -
Takagi Masaki,
Kouwaki Masanori,
Kawase Koya,
Shinohara Hiroyuki,
Hasegawa Yukihiro,
Yamada Takahiro,
Fujiwara Ikuma,
Sawai Hideaki,
Nishimura Gen,
Hasegawa Tomonobu
Publication year - 2015
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.37231
Subject(s) - medicine , pediatrics , medical school , obstetrics and gynaecology , family medicine , pediatric endocrinology , medical education , pregnancy , genetics , biology