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Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo‐epiphyseal dysplasia mimicking autosomal dominant brachyolmia
Author(s) -
Takagi Masaki,
Shimizu Mika,
Suzuki Eri,
Shinohara Hiroyuki,
Narumi Satoshi,
Hasegawa Tomonobu,
Nishimura Gen,
Hasegawa Yukihiro
Publication year - 2016
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.37481
Subject(s) - exome sequencing , mutation , genetics , dysplasia , exome , biology , medicine , gene