Genetic Techniques in the Evaluation of Short Stature

• Autores: Christopher J. Romero, Lakshmi Mehta, Robert Rapaport
• Localización: Endocrinology and metabolism clinics of North America, ISSN 0889-8529, Vol. 45, Nº. 2, 2016 (Ejemplar dedicado a: Pediatric Endocrinology), págs. 345-358
• Idioma: inglés
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• Resumen

  • Normal growth is a complex dynamic process dependent on the coordination of multiple factors including genetics, nutrition and hormones that are all working in balance. This chapter will review selected features of commonly utilized genetic techniques such as chromosomal analysis, microarray analysis, targeted gene screening and whole exome sequencing that are being used to identify genes influencing growth. As genetic technologies continue to improve and become more accessible many of these techniques will help to provide a better understanding of mechanisms underlying abnormal growth and will eventually lead to novel management approaches for abnormal growth.