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Genetics Diagnosis, Inborn Errors of Met

  • ISBN 9780323356626
  • Author: By Michael J. Gambello, MD
  • Publ Date: 2015-06-10
  • Edition:
  • Binding: Hardback

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Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
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