Open AccessMutations inProkineticin 2andProkineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum
Author(s) -
Lindsay W. Cole,
Yisrael Sidis,
Chengkang Zhang,
Richard Quinton,
Lacey Plummer,
Duarte Pignatelli,
Virginia Hughes,
Andrew A. Dwyer,
Taneli Raivio,
Frances J. Hayes,
Stephanie B. Seminara,
Céline Huot,
Nathalie Alos,
Phyllis Speiser,
Akira Takeshita,
G. Vanvliet,
Simon H. S. Pearce,
William F. Crowley,
QunYong Zhou,
Nelly Pitteloud
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.2007-2654
Subject(s) - endocrinology , medicine , biology , kallmann syndrome , mutation , proband , compound heterozygosity , mutant , genetics , gene , disease , covid-19 , infectious disease (medical specialty)
Mice deficient in prokineticin 2(PROK2) and prokineticin receptor2 (PROKR2) exhibit variable olfactory bulb dysgenesis and GnRH neuronal migration defects reminiscent of human GnRH deficiency.