Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome.

Abstract excerpt

Sotos syndrome is an overgrowth disorder with autosomal dominant inheritance caused by mutations and deletions in the nuclear receptor Set domain-containing protein 1 gene. In general, affected individuals have an advanced bone age, macrocephaly, characteristic facial gestalt and learning difficulties. Genotype-phenotype correlations are unclear. Full penetrance is seen and 95% of cases are de novo. Here, we...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Family Health
• Share to Genetic Association Studies
• Share to Histone-Lysine N-Methyltransferase