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1st edition

NEW! Medical Genetics in Pediatric Practice

Robert A. Saul, MD, FAAP, FACMG

This all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront.


503 pages
Paperback
2013
Item #: MA0565
ISBN 13: 978-1-58110-496-7

Retail: $84.95
Members: $74.95
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94 - 4 Star Review!
"This is a wonderful, well-planned book...it should be on the must-have list for all those interested in current information on human and medical genetics."
Doody's Book Review

Embodying current Policy of the AAP, this new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else.
 
Consult this one-stop problem-solver for:
 
- Must-know basics on genetic processes, inheritance patterns, and genetic testing
- Concise summaries of common genetic disorders
- Recognition, evaluation, diagnosis, and treatment how-to's
- Illuminating images of anomalies that may indicate genetic conditions
- Case-based examples of ethical issues
 
Here's the how, why, where, and when of pediatric genetic care:
 
- How to recognize diverse genetic disorders
- How to take a complete genetic history
- How to spot at-risk patients
- Why to create a pedigree
- When to consider a genetic evaluation
- How to conduct genetic screening and testing
- How to identify appropriate therapeutic approaches
- Where to find critical resources
- When to refer to a geneticist
 
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94 - 4 Star Review!
Doody's Book Review
 
Description
Derived from the American Academy of Pediatrics Policy Guidelines, this is a detailed compilation of current genetic information with magnificent illustrations designed to be used as a consultative source for pediatricians.
 
Purpose
Dr. Saul and the unique group of contributors suggest guidelines that can be used by pediatricians to apply current genetic knowledge in their practices. This is a much-needed service and a highly difficult task...it is a wonderfully written medical genetics book that reviews basic concepts and promotes the involvement of general pediatricians in the treatment and recognition of genetic disorders.
 
Audience
The American Academy of Pediatrics endorses this publication as a resource that should be available to general pediatricians to help them incorporate medical genetics into their practices. The target audience is clearly pediatricians in general. However, the detailed information the book includes also may be helpful to medical genetics residents and pediatric residents early in their education. Dr. Saul is a well-known medical geneticist who has recruited a high quality team of contributors to the book, all recognized as experts in the field.
 
Features
The book moves from basic science to clinical genetics, covering basic concepts of human genetics in the early chapters, clinical genetics in the midsection, and concluding with genetic counseling and additional resources. Of particular interest is the dysmorphology section, which is beautifully illustrated with wonderful clinical photographs. Although there are not clearly innovative features, the glossary is extensive and very useful, as are the unique appendixes such as the initial genetics screening evaluation.
 
Assessment
This is a wonderful, well-planned book...this is an invaluable tool, and it should be in the must-have list for all those interested in current information on human and medical genetics.
NEW! Medical Genetics in Pediatric Practice
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