TY  - BOOK
AU  - Hudgins,Louanne
AU  - Toriello,Helga V.
AU  - Enns,Gregory M.
AU  - Hoyme,H.Eugene
TI  - Signs and symptoms of genetic disease: a handbook 
SN  - 9780199930975 (pbk. : alk. paper)
AV  - RB155.5 .S574 2014
U1  - 616/.042 23
PY  - 2014///]
CY  - Oxford, New York
PB  - Oxford University Press
KW  - Genetic disorders
KW  - Diagnosis, Differential
KW  - Child
KW  - Handbooks
KW  - Genetic Diseases, Inborn
KW  - diagnosis
KW  - Genetic Testing
KW  - Signs and Symptoms
KW  - local
KW  - Print books
N1  - Includes bibliographical references and index; 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
ER  -