X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions

Clin Dysmorphol. 2009 Oct;18(4):218-21. doi: 10.1097/MCD.0b013e32832d06f0.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Base Sequence
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Genes, X-Linked*
  • Human Growth Hormone / deficiency*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Peptides / genetics*
  • Phenotype
  • SOXB1 Transcription Factors / genetics*
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • Peptides
  • SOX3 protein, human
  • SOXB1 Transcription Factors
  • Human Growth Hormone
  • polyalanine