A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome

Clin Dysmorphol. 2020 Oct;29(4):214-216. doi: 10.1097/MCD.0000000000000339.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / metabolism
  • Biomarkers
  • Bone Diseases, Developmental / diagnosis*
  • Bone Diseases, Developmental / genetics*
  • Bone Diseases, Developmental / metabolism
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / metabolism
  • Fatal Outcome
  • Female
  • Genetic Association Studies* / methods
  • Genetic Predisposition to Disease*
  • Humans
  • Infant, Newborn
  • Mutation*
  • NFI Transcription Factors / genetics*
  • Phenotype*
  • Radiography
  • Septo-Optic Dysplasia / diagnosis*
  • Septo-Optic Dysplasia / genetics*
  • Septo-Optic Dysplasia / metabolism
  • Whole Genome Sequencing

Substances

  • Biomarkers
  • NFI Transcription Factors
  • NFIX protein, human

Supplementary concepts

  • Marshall-Smith syndrome