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Familial short stature is associated with a novel dominant‐negative heterozygous insulin‐like growth factor 1 receptor ( IGF 1 R ) mutation
Author(s) -
Kawashima Yuki,
Hakuno Fumihiko,
Okada Shinichi,
Hotsubo Tomoyuki,
Kinoshita Tomoe,
Fujimoto Masanobu,
Nishimura Rei,
Fukushima Toshiaki,
Hanaki Keiichi,
Takahashi ShinIchiro,
Kanzaki Susumu
Publication year - 2014
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.12317
Subject(s) - endocrinology , medicine , short stature , mutation , insulin like growth factor , receptor , growth factor , insulin , biology , genetics , gene