Open AccessShort Stature Associated with a Novel Heterozygous Mutation in theInsulin-Like Growth Factor 1Gene
Author(s) -
Hermine A. van Duyvenvoorde,
P.A. van Setten,
M.J.E. Walenkamp,
J. van Doorn,
Jens Koenig,
Lisbeth Gauguin,
Wilma Oostdijk,
Claudia Ruivenkamp,
Monique Losekoot,
John D. Wade,
Pierre De Meyts,
Marcel Karperien,
C. Noordam,
Jan M. Wit
Publication year - 2010
Publication title -
the 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.2010-0511
Subject(s) - short stature , mutation , genetics , idiopathic short stature , insulin like growth factor , gene , insulin , endocrinology , biology , growth factor , growth hormone , hormone , receptor
Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly, and mental retardation. Heterozygosity for an IGF-I defect may modestly decrease height and head circumference.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom