• PMID: 16061567
• Gene Name: FGFR1
• Condition: Hypogonadotropic hypogonadism, azoospermia, male infertility, Kallmann syndrome
• Association: Mutation analysis of the second non-translocated FGFR1 allele from the patient, done by SSCP and direct sequencing, identified only a heterozygous nucleotide difference, 345 CRT in exon 3, a known SNP (NCBI reference SNP ID: rs2915665) which does not alte
• Mutation: 46,XY,t(7;8)(p12.3;p11.2)
• Population size: 1
• Population details: 1 Hypogonadotropic hypogonadism
• Age: 31 yrs
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Hypogonadotropic hypogonadism, azoospermia, male infertility

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF.

No abstract available