Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: Frequency and clinical manifestations in a North American population

Journal of Medical Genetics

Volumn 34, Issue 3, 1997, Pages 203-206

  Wallerstein, Robert ^a,d   Andersen, Carol E ^a   Hay, Beverly ^a   Gupta, Pawan ^a   Gibas, Longina ^a   Ansari, Kamran ^a   Cowchock, F Susan ^a   Weinblatt, Vivian ^a   Reid, Cheryl ^b   Levitas, Andrew ^c   Jackson, Laird ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

^c UMDNJ School of Osteopathic Medicine   (United States)

^d NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Chromosome 16p deletions; Clinical features; Fluorescent in situ hybridisation; Rubinstein Taybi syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 16P; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COLOBOMA; CONGENITAL MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE FREQUENCY; GENETIC SCREENING; GROWTH RETARDATION; HUMAN; HUMAN CELL; INFANT; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NEVUS FLAMMEUS; NEWBORN; PRESCHOOL CHILD; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; SCHOOL CHILD; SHORT STATURE;

EID: 16944362383     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.3.203     Document Type: Article

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