Pitteloud, Nelly

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. [electronic resource] - The Journal of clinical investigation Feb 2007 - 457-63 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

0021-9738

10.1172/JCI29884 doi


Adult
Amino Acid Sequence
Base Sequence
Conserved Sequence
DNA--genetics
Female
Fibroblast Growth Factor 8--metabolism
Genotype
Gonadotropin-Releasing Hormone--deficiency
Heterozygote
Humans
Hypogonadism--etiology
Kallmann Syndrome--genetics
Male
Models, Genetic
Models, Molecular
Molecular Sequence Data
Mutation
Pedigree
Phenotype
Receptor, Fibroblast Growth Factor, Type 1--chemistry
Receptors, LHRH--genetics
Sequence Deletion
Sequence Homology, Amino Acid
Transcription Factors--genetics