Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

American Journal of Medical Genetics

Volumn 62, Issue 3, 1996, Pages 247-254

  Greenberg, Frank ^a,b   Lewis, Richard A ^a   Potocki, Lorraine ^a   Glaze, Daniel ^a   Parke, Julie ^a,c   Killian, James ^a   Murphy, Mary Ada ^a   Williamson, Daniel ^a   Brown, Frank ^a   Dutton, Robert ^a   McCluggage, Charles ^a   Friedman, Ellen ^a   Sulek, Marcelle ^a   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF OKLAHOMA   (United States)

Author keywords

chromosome syndrome; contiguous gene deletion; mental retardation; microdeletion; REM sleep abnormalities

Indexed keywords

IMMUNOGLOBULIN; THYROXINE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 17P; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; FEMALE; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; IRIS DISEASE; KIDNEY MALFORMATION; MALE; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SLEEP DISORDER; SMITH MAGENIS SYNDROME; STRABISMUS; THYROXINE BLOOD LEVEL;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AUDIOMETRY; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; EYE ABNORMALITIES; FEMALE; HUMANS; INFANT; MALE; NEUROLOGIC EXAMINATION;

EID: 0029920807     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960329)62:3<247::AID-AJMG9>3.0.CO;2-Q     Document Type: Article

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