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Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C
Author(s) -
Takagi Masaki,
KanekoSchmitt Saori,
Suzumori Nobuhiro,
Nishimura Gen,
Hasegawa Tomonobu
Publication year - 2012
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.34358
Subject(s) - obstetrics and gynaecology , medicine , medical school , family medicine , pediatrics , library science , medical education , pregnancy , genetics , biology , computer science