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
| 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.
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.
