Genetics of Short Stature

• Autores: Youn Hee Jee, Anenisia C. Andrade, Jeffrey Baron, Ola Nilsson
• Localización: Endocrinology and metabolism clinics of North America, ISSN 0889-8529, Vol. 46, Nº. 2, 2017 (Ejemplar dedicado a: Genetics of Endocrine Disorders), págs. 259-281
• Idioma: inglés
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• Resumen

  • Short stature is a common and heterogeneous condition that is often genetic in etiology. For most children with genetic short stature, the specific molecular causes remain unknown; but with advances in exome/genome sequencing and bioinformatics approaches, new genetic causes of growth disorders have been identified, contributing to the understanding of the underlying molecular mechanisms of longitudinal bone growth and growth failure. Identifying new genetic causes of growth disorders has the potential to improve diagnosis, prognostic accuracy, and individualized management, and help avoid unnecessary testing for endocrine and other disorders.