Open AccessImpact on Bone of an Estrogen Receptor-α Gene Loss of Function Mutation
Author(s) -
Eric P. Smith,
Bonny Specker,
Bert Bachrach,
K. Sean Kimbro,
X. J. Li,
Marian F. Young,
Neal S. Fedarko,
M. Jennifer Abuzzahab,
Graeme R. Frank,
Robert M. Cohen,
Dennis B. Lubahn,
Kenneth S. Korach
Publication year - 2008
Publication title -
the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2007-2397
Subject(s) - bone mineral , endocrinology , medicine , bone density , osteopenia , cortical bone , quantitative computed tomography , osteoporosis , anatomy
The kindred described is the only known instance of a germ line loss of function mutation of estrogen receptor (ER)-alpha.