Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation

Am J Med Genet A. 2015 May;167A(5):1161-4. doi: 10.1002/ajmg.a.36981. Epub 2015 Mar 28.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Filamins / genetics*
  • Forehead / abnormalities*
  • Forehead / diagnostic imaging
  • Forehead / physiopathology
  • Genetic Association Studies*
  • Humans
  • Male
  • Mutation / genetics*
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / physiopathology
  • Phenotype
  • Radiography
  • Recurrence
  • Sequence Analysis, DNA
  • Siblings

Substances

  • FLNA protein, human
  • Filamins

Supplementary concepts

  • Frontometaphyseal dysplasia