Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome

Clin Dysmorphol. 2022 Jan 1;31(1):45-49. doi: 10.1097/MCD.0000000000000389.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Craniofacial Abnormalities* / genetics
  • Developmental Disabilities* / genetics
  • Exome Sequencing
  • Heart Defects, Congenital* / genetics
  • Humans
  • Infant, Newborn
  • Osteochondrodysplasias* / congenital
  • Osteochondrodysplasias* / genetics
  • Turkey

Substances

  • Adaptor Proteins, Signal Transducing
  • SH3PXD2B protein, human

Supplementary concepts

  • Ter Haar syndrome