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

J Med Genet. 2005 Aug;42(8):666-72. doi: 10.1136/jmg.2004.026989.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7
  • Chromosomes, Human, Pair 8
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • DNA Mutational Analysis
  • Humans
  • In Situ Hybridization, Fluorescence
  • Kallmann Syndrome / genetics*
  • Male
  • Microfilament Proteins / genetics
  • Molecular Sequence Data
  • Mutant Chimeric Proteins / genetics
  • Receptor, Fibroblast Growth Factor, Type 1 / genetics*
  • Tensins
  • Translocation, Genetic*

Substances

  • Microfilament Proteins
  • Mutant Chimeric Proteins
  • Tensins
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1

Associated data

  • GENBANK/AC073341
  • GENBANK/AC087623
  • GENBANK/AF417489
  • RefSeq/NM_000604