Introduction
Genetics has long been recognized as playing an integral role in pediatric medicine, given that many genetic disorders are congenital or have their onset in childhood. Medical genetics came of age as a discipline in the 1950s, with the discovery of the chromosomal basis of disorders such as Down syndrome and the advent of treatment for inborn errors of metabolism and newborn screening in the 1960s. Over the ensuing years, great progress has been made in both diagnosis and management of genetic disorders, congenital anomalies, and chromosomal abnormalities. Nevertheless, through most of the past 50 years, two notions have been associated with medical genetics. First, it was perceived that medical genetics focused on rare, if not obscure, conditions – conditions that were important to the individuals and families that are touched by them, but having an impact on only a small slice of medicine. The second notion was that, with the exception of some inborn errors of...
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Korf, B.R. (2012). Genetics in Pediatric Medicine. In: Elzouki, A.Y., Harfi, H.A., Nazer, H.M., Stapleton, F.B., Oh, W., Whitley, R.J. (eds) Textbook of Clinical Pediatrics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-02202-9_1
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DOI: https://doi.org/10.1007/978-3-642-02202-9_1
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