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Genetic Consultations in the Newborn

Genetic Consultations in the Newborn

Robin D. Clark, Cynthia Jane Rapp Curry
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This book was written to assist clinicians who care for newborns with congenital abnormalities in their diagnosis, genomic testing, and management. The goal was to make the evaluation of common neonatal anomalies and genetic syndromes accessible and understandable. In addition, the book may serve as an initial guide for practitioners in areas in which clinical genetic expertise is not readily available. As the book was being written, the testing paradigm shifted to a genomic approach: Chromosome analysis gave way to microarrays, and single gene testing was largely replaced by gene panels and exome sequencing. Thus, this book, which was initially intended as a clinical primer, of necessity became a resource for gene-based information as well.
Kategorien:
Jahr:
2019
Verlag:
Oxford University Press
Sprache:
english
Seiten:
400
ISBN 10:
0199990999
ISBN 13:
9780199990993
Datei:
PDF, 58.11 MB
IPFS:
CID , CID Blake2b
english, 2019
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