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.
Sato N.; Katsumata N.; Kagami M.; Hasegawa T.; Hori N.; Kawakita S.; Minowada S.; Shimotsuka A.; Shishiba Y.; Yokozawa M.; Yasuda T.; Nagasaki K.; Hasegawa D.; Hasegawa Y.; Tachibana K.; Naiki Y.; Horikawa R.; Tanaka T.; Ogata T.;
J. Clin. Endocrinol. Metab. 89:1079-1088(2004)
Cited for: VARIANT HH2 SER-745;
Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report.
Sato N.; Hasegawa T.; Hori N.; Fukami M.; Yoshimura Y.; Ogata T.;
Hum. Reprod. 20:2173-2178(2005)
Cited for: VARIANTS HH2 ARG-687 AND SER-745;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.