| Description |
1 online resource |
| Physical Medium |
polychrome |
| Description |
text file |
| Summary |
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. |
| Contents |
Cover; Signs and Symptoms of Genetic Conditions; Contents; Preface; Contributors; Signs and Symptoms of Genetic Conditions ; 1Genetic Testing; 2Short Stature; 3Obesity; 4Overgrowth Syndromes; 5Asymmetry; 6Microcephaly; 7Macrocephaly; 8Alterations in Cranial Shape; 9Brain Malformations; 10Intellectual Disability; 11Autism Spectrum Disorders; 12Hypotonia; 13Weakness; 14Ataxia; 15Seizures; 16Metabolic Acidosis; 17Hypoglycemia; 18Hyperammonemia; 19Hepatosplenomegaly; 20Hearing Loss; 21Malformations of the External Ear; 22Anomalies of the Eye; 23Facial Clefting; 24Congenital Heart Defects. |
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25Genetics of Renal Malformations26 Limb Anomalies; 27Congenital Contractures: Emphasizing Multiple Congenital Contractures-Arthrogryposis; 28Disorders of Sexual Development; 29Alterations in Skin Pigmentation; 30Skin Malformations; 31 Spontaneous Abortion and Intrauterine Fetal Death; Index. |
| Local Note |
eBooks on EBSCOhost EBSCO eBook Subscription Academic Collection - North America |
| Subject |
Genetic disorders.
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Genetic disorders. |
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Symptoms -- Handbooks, manuals, etc.
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Symptoms. |
| Genre/Form |
Handbooks and manuals.
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Electronic books.
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Handbooks and manuals.
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| Added Author |
Hudgins, Louanne, editor.
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Toriello, Helga V., editor.
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Enns, Gregory M., editor.
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Hoyme, H. Eugene, editor.
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| Other Form: |
Print version: Hudgins, Louanne. Signs and Symptoms of Genetic Conditions: A Handbook. Oxford : Oxford University Press, USA, 2014 019993097X |
| ISBN |
9780199388691 (electronic book) |
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0199388695 (electronic book) |
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9781306731331 (electronic book) |
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130673133X (electronic book) |
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019993097X (Paper) |
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9780199930975 (Paper) |
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