22q13 deletion syndrome with central diabetes insipidus: A previously unreported association

Clinical Dysmorphology

Volumn 13, Issue 3, 2004, Pages 191-194

  Barakat, Amin J ^a,d   Pearl, Phillip L ^b,c   Acosta, Maria T ^c   Runkle, Beatriz P ^a  

^a GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^b GEORGETOWN UNIVERSITY   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d Georgetown University Medical Center ^*  (United States)

Author keywords

22q13 deletion syndrome; Central diabetes insipidus

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME Q BAND; CYTOGENETICS; DIABETES INSIPIDUS; DISEASE ASSOCIATION; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE 46,XX; LANGUAGE DISABILITY; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; CHROMOSOME 22; FACIES; GENETICS; MULTIPLE MALFORMATION SYNDROME; SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIABETES INSIPIDUS; FACIES; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LANGUAGE DEVELOPMENT DISORDERS; MENTAL RETARDATION; SYNDROME;

EID: 14844355691     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000134479.65125.08     Document Type: Article

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