Weaver syndrome and defective cortical development: a rare association

Am J Med Genet A. 2013 Jan;161A(1):225-7. doi: 10.1002/ajmg.a.35660. Epub 2012 Dec 13.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Congenital Hypothyroidism / diagnosis*
  • Congenital Hypothyroidism / genetics*
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics*
  • Enhancer of Zeste Homolog 2 Protein
  • Exons
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant
  • Male
  • Mutation
  • Polycomb Repressive Complex 2 / genetics

Substances

  • EZH2 protein, human
  • Enhancer of Zeste Homolog 2 Protein
  • Polycomb Repressive Complex 2

Supplementary concepts

  • Weaver syndrome