Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18

American Journal of Medical Genetics

Volumn 102, Issue 3, 2001, Pages 293-296

  Chamyan, Gabriel ^a   Debich Spicer, Diane ^a   Opitz, John M ^b   Gilbert Barness, Enid ^a,c  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c TAMPA GENERAL HOSPITAL   (United States)

Author keywords

Aganglionosis; Autosomal recessive; Heterogeneity; Hypoperistalsis; Megacystis; Microcolon; Nicotinic acid gene mutation; Trisomy 18

Indexed keywords

AGANGLIONOSIS; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 15Q; CLINICAL FEATURE; COLON MALFORMATION; FEMALE; FETUS; HORSESHOE KIDNEY; HUMAN; HUMAN TISSUE; INTESTINE FUNCTION DISORDER; INTESTINE MALFORMATION; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; PREGNANCY TERMINATION; PRIORITY JOURNAL; TRISOMY 18; URINARY TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 8; COLON; FATAL OUTCOME; FEMALE; FETAL DEATH; FETUS; HUMANS; PERISTALSIS; SYNDROME; TRISOMY; URINARY BLADDER;

EID: 0035882510     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1469     Document Type: Article

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