A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome

Am J Hum Genet. 1998 Nov;63(5):1277-81. doi: 10.1086/302125.
No abstract available

Publication types

  • Editorial
  • Review
  • Comment

MeSH terms

  • Acrocephalosyndactylia / diagnosis
  • Acrocephalosyndactylia / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7
  • Diagnosis, Differential
  • Gene Deletion*
  • Humans
  • Nuclear Proteins*
  • Sequence Deletion*
  • Transcription Factors / genetics*
  • Twist-Related Protein 1

Substances

  • Nuclear Proteins
  • TWIST1 protein, human
  • Transcription Factors
  • Twist-Related Protein 1