Filamin A gene mutation in an infant with progressive pulmonary emphysema, periventricular nodular heterotopia and congenital heart disease

BMJ Case Rep. 2024 Jan 4;17(1):e257676. doi: 10.1136/bcr-2023-257676.
No abstract available

Keywords: Congenital disorders; Epilepsy and seizures; Genetics; Paediatric intensive care; Pulmonary emphysema.

Publication types

  • Case Reports

MeSH terms

  • Filamins / genetics
  • Heart Defects, Congenital* / complications
  • Heart Defects, Congenital* / diagnostic imaging
  • Heart Defects, Congenital* / genetics
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Mutation
  • Periventricular Nodular Heterotopia* / complications
  • Periventricular Nodular Heterotopia* / diagnostic imaging
  • Periventricular Nodular Heterotopia* / genetics
  • Pulmonary Emphysema* / complications
  • Pulmonary Emphysema* / diagnostic imaging
  • Pulmonary Emphysema* / genetics

Substances

  • Filamins