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Title Signs and symptoms of genetic conditions : a handbook / edited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, and H. Eugene Hoyme.

Publication Info. Oxford ; New York : Oxford University Press, [2014]


Location Call No. OPAC Message Status
 Axe EBSCO Clinical Nursing E-Book  Electronic Book    ---  Available
Description 1 online resource
text txt rdacontent
computer c rdamedia
online resource cr rdacarrier
Note Print version record.
Contents Genetic testing / Gregory M. Enns, Louanne Hudgins, and Tina M. Cowan -- Short stature / Melanie A. Manning -- Obesity / David J. Aughton -- Overgrowth syndromes / Margaret P. Adam -- Asymmetry / Omar A. Abdul-Rahman -- Microcephaly / Cynthia J. Curry -- Macrocephaly / Helga V. Toriello and Margaret P. Adam -- Alterations in cranial shape / Michael J. Lyons -- Brain malformations / Anne Slavotinek -- Intellectual disability / Agatino Battaglia -- Autism spectrum disorders / Marwan Shinawi -- Hypotonia / Elliott H. Sherr and Gregory M. Enns -- Weakness / Amy Kao and Robert D. Steiner -- Ataxia / Ching H. Wang and Gregory M. Enns -- Seizures / Randall A. Heidenreich -- Metabolic acidosis / Tina M. Cowan and Gregory M. Enns -- Hypoglycemia / Divya Vats and Seymour Packman -- Hyperammonemia / Gregory M. Enns and Tina M. Cowan -- Hepatosplenomegaly / Renata C. Gallagher -- Hearing loss / Eloise Prijoles -- Malformations of the external ear / Chad Haldeman-Englert and Helga V. Toriello -- Anomalies of the eye / Graeme C. Black and Rachel Gillespie -- Facial clefting / Marilyn C. Jones -- Congenital heart defects / Tom Cushing and Joseph T.C. Shieh -- Genetics of renal malformations / Joseph T.C. Shieh -- Limb anomalies / David B. Everman and Leslie G. Biesecker -- Congenital contractures: emphasizing multiple congenital contractures-arthrogryposis / Judith G. Hall -- Disorders of sexual development / Christopher Cunniff -- Alterations in skin pigmentation / Anna L. Bruckner -- Skin malformations / Mary Beth Palko Dinulos -- Spontaneous abortion and intrauterine fetal death / Andrea Kwan and H. Eugene Hoyme.
Summary "Connecting an abnormal physical exam to the possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis."--Back cover
Bibliography Includes bibliographical references and index.
Subject Genetic disorders.
Symptoms -- Handbooks, manuals, etc.
Diagnosis, Differential.
Genetic screening.
Genetic Diseases, Inborn -- diagnosis
Genetic Diseases, Inborn
Diagnosis, Differential
Genetic Testing
Signs and Symptoms
Maladies génétiques.
Signes et symptômes -- Guides, manuels, etc.
Diagnostics différentiels.
Dépistage génétique.
children (people by age group)
HEALTH & FITNESS -- Diseases -- General.
MEDICAL -- Clinical Medicine.
MEDICAL -- Diseases.
MEDICAL -- Evidence-Based Medicine.
MEDICAL -- Internal Medicine.
Genetic disorders. (OCoLC)fst00940009
Symptoms. (OCoLC)fst01140998
Genre/Form Handbook
Handbooks and manuals. (OCoLC)fst01423877
Handbooks and manuals.
Guides et manuels.
Added Author Hudgins, Louanne, editor.
Toriello, Helga V., editor.
Enns, Gregory M., editor.
Hoyme, H. Eugene, editor.
Other Form: Print version: Hudgins, Louanne. Signs and Symptoms of Genetic Conditions: A Handbook. Oxford : Oxford University Press, USA, 2014 9780199930975 (DLC) 2013048866 (OCoLC)865543983
ISBN 9780199388691 (electronic bk.)
0199388695 (electronic bk.)
9781306731331 (electronic bk.)
130673133X (electronic bk.)
019993097X (Paper)
9780199930975 (Paper)
Standard No. AU@ 000058374165

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