Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.

@article{Quintos2015IdiopathicSS,
  title={Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.},
  author={Jose Bernardo Quintos and Michael H. Guo and Andrew Dauber},
  journal={Journal of pediatric endocrinology & metabolism : JPEM},
  year={2015},
  volume={28 7-8},
  pages={927-32}
}
BACKGROUND Recently, whole exome sequencing identified heterozygous defects in the aggrecan (ACAN) gene in three families with short stature and advanced bone age. OBJECTIVE We report a novel frameshift mutation in ACAN in a family with dominantly inherited short stature, advanced bone age, and premature growth cessation. This is the first case of targeted sequencing of ACAN in this phenotype and confirms that ACAN sequencing is warranted in patients with this rare constellation of findings… CONTINUE READING
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