Jacobsen syndrome: Report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11(q23q25) and review of 52 cases

Journal of Medical Genetics

Volumn 33, Issue 9, 1996, Pages 772-778

  Pivnick, E K ^a   Velagaleti, G V N ^a   Wilroy, R S ^a   Smith, M E ^a   Rose, S R ^a   Tipton, R E ^b   Tharapel, A T ^a  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^b Baptist Hospital   (United States)

Author keywords

Deletion 11(q23q25); Jacobsen syndrome

Indexed keywords

GROWTH HORMONE; THYROID HORMONE;

ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM MALFORMATION; CENTROMERE; CHROMOSOME 11Q; CHROMOSOME DELETION; COLOBOMA; COSMID; ENDOCARDIAL CUSHION DEFECT; EYE MALFORMATION; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HUMAN; HYDROCEPHALUS; HYPOTHYROIDISM; KARYOTYPE; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; TELECANTHUS; TELOMERE;

EID: 0029745041     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.9.772     Document Type: Article

References (14)

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