Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss

Clin Genet. 2014 Jun;85(6):592-4. doi: 10.1111/cge.12215. Epub 2013 Jul 5.
No abstract available

Publication types

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

MeSH terms

  • Abortion, Habitual / genetics*
  • Abortion, Habitual / pathology
  • Adaptor Proteins, Signal Transducing
  • Adult
  • Alleles
  • Bone and Bones / abnormalities*
  • Bone and Bones / pathology
  • Craniosynostoses / genetics*
  • Craniosynostoses / pathology
  • Cytoskeletal Proteins
  • Ectodermal Dysplasia / genetics*
  • Ectodermal Dysplasia / pathology
  • Exome
  • Female
  • Heterozygote
  • Humans
  • Mutation
  • Proteins / genetics*

Substances

  • Adaptor Proteins, Signal Transducing
  • Cytoskeletal Proteins
  • IFT122 protein, human
  • Proteins

Supplementary concepts

  • Cranioectodermal Dysplasia