Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. [electronic resource]
- The Journal of clinical endocrinology and metabolism Mar 2004
- 1079-88 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0021-972X
10.1210/jc.2003-030476 doi
Adolescent Adult Child DNA Mutational Analysis Extracellular Matrix Proteins--genetics Family Health Female Genetic Predisposition to Disease--epidemiology Humans Kallmann Syndrome--epidemiology Magnetic Resonance Imaging Male Middle Aged Nerve Tissue Proteins--genetics Pedigree Prevalence Receptor Protein-Tyrosine Kinases--genetics Receptor, Fibroblast Growth Factor, Type 1 Receptors, Fibroblast Growth Factor--genetics Smell