FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism

Am J Med Genet A. 2018 Jan;176(1):139-143. doi: 10.1002/ajmg.a.38535. Epub 2017 Nov 21.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Aberrations*
  • Chromosome Banding
  • Comparative Genomic Hybridization
  • Gene Rearrangement*
  • Humans
  • Hypogonadism / diagnosis*
  • Hypogonadism / genetics*
  • Male
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics*
  • Whole Genome Sequencing*

Substances

  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1