Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update, An Issue of Clinics in Perinatology, E-Book

Nonfiction, Health & Well Being, Medical, Specialties, Perinatology & Neonatology, Gynecology & Obstetrics
Cover of the book Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update, An Issue of Clinics in Perinatology, E-Book by Michael J. Gambello, MD, Elsevier Health Sciences
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Author: Michael J. Gambello, MD ISBN: 9780323356855
Publisher: Elsevier Health Sciences Publication: August 12, 2015
Imprint: Elsevier Language: English
Author: Michael J. Gambello, MD
ISBN: 9780323356855
Publisher: Elsevier Health Sciences
Publication: August 12, 2015
Imprint: Elsevier
Language: English

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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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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