Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome Article

sustainable development goals

publication date

  • July 19, 2017

webpage

published in

keywords

  • Conorenal dysplasia
  • Heterodisomy
  • Intraflagellar transport
  • Skeletal ciliopathy
  • Whole exome sequencing
  • Zebrafish

volume

  • 11