عنوان

Signs and symptoms of genetic conditions :

(Number (ISBN

019993097X (alk. paper)

(Number (ISBN

9780199930975 (alk. paper)

Number

dltt

Title Proper

Signs and symptoms of genetic conditions :

General Material Designation

[Book]

Other Title Information

a handbook /

First Statement of Responsibility

edited by Louanne Hudgins, Helga V. Toriello, Gregory M. Enns, H. Eugene Hoyme

Specific Material Designation and Extent of Item

xv, 540 pages ;

Dimensions

24 cm

Text of Note

Includes bibliographical references and index

Text of Note

Connecting an abnormal physical exam to a 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. To maximize clinical utility, this handbook features: Prominent flow chart diagrams that graphically depict the diagnostic approach. Concise recommendations for laboratory and/or imaging studies. Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom. Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis. Book jacket

Diagnosis, Differential

Genetic disorders

Child

Diagnosis, Differential

Genetic Diseases, Inborn-- diagnosis

Genetic Testing

Signs and Symptoms

Number

Edition

Class number

Book number

Class number

Enns, Gregory M.

Hoyme, H. Eugene

Hudgins, Louanne

Toriello, Helga V.

Date of Transaction

20140912111826.0

Cataloguing Rules (Descriptive Conventions))

rda

Electronic name

[Book]

Y