Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype

Congenit Anom (Kyoto). 2019 Jan;59(1):26-27. doi: 10.1111/cga.12285. Epub 2018 May 16.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / physiopathology
  • Carrier Proteins / genetics*
  • Child, Preschool
  • Craniofacial Abnormalities / diagnostic imaging
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / physiopathology
  • Dysostoses / diagnostic imaging
  • Dysostoses / genetics*
  • Dysostoses / physiopathology
  • Female
  • Humans
  • Male
  • Muscular Atrophy / diagnostic imaging
  • Muscular Atrophy / genetics*
  • Muscular Atrophy / physiopathology
  • Mutation
  • Pedigree
  • Phenotype

Substances

  • BMPER protein, human
  • Carrier Proteins

Supplementary concepts

  • Facial Dysmorphism with Multiple Malformations