Open AccessWhen Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR)
Author(s) -
Elena Gianetti,
Janet E. Hall,
Margaret Au,
Ursula B. Kaiser,
Richard Quinton,
Jane A. Stewart,
Daniel L. Metzger,
Nelly Pitteloud,
Verónica Mericq,
Paulina M. Merino,
Lynne L. Levitsky,
Louise Izatt,
Mariarosaria LangMuritano,
Victor Y. Fujimoto,
Robert G. Dluhy,
Matthew Chase,
William F. Crowley,
Lacey Plummer,
Stephanie B. Seminara
Publication year - 2012
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.2012-1264
Subject(s) - gnrhr , proband , phenotype , genetics , biology , mutation , allele , gene , gonadotropin releasing hormone , endocrinology , luteinizing hormone , hormone
A broad spectrum of GnRH-deficient phenotypes has been identified in individuals with both mono- and biallelic GNRHR mutations.
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