Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism
J. Clin. Invest. Nelly Pitteloud, et al. 117:457 doi:10.1172/JCI29884 [
Go to this article.]
Figure 1Identification of
FGFR1 (p.L342S) and
NELF (8-bp intronic deletion) mutations in pedigree 1; identification of
GNRHR [p.Q106R] and [p.R262Q] and
FGFR1 (p.R470L) mutations in pedigree 2.
Only subjects harboring 2 gene defects have IHH. Probands are identified by arrows; circles denote females, squares denote males. Del,
NELF intronic deletion.
