Normal Cognition and Behavior in a Smith-Lemli-Opitz Syndrome Patient Who Presented With Hirschsprung Disease

American Journal of Medical Genetics

Volumn 123 A, Issue 1, 2003, Pages 100-106

  Mueller, C ^b   Patel, S ^c   Irons, M ^d   Antshel, K ^d   Salen, G ^e   Tint, G S ^e   Bay, C ^a  

^a CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

7 and 8 dehydrocholesterol; DHCR7 mutations; Hirschsprung disease; Smith Lemli Opitz syndrome

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL;

ABDOMINAL DISTENSION; ARTICLE; BIRTH; BREAST FEEDING; BREAST MILK; CASE REPORT; CHILD BEHAVIOR; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL SYNTHESIS; COGNITION; COLON BIOPSY; COLOSTOMY; CYTODIAGNOSIS; DELIVERY; DIET SUPPLEMENTATION; DISEASE SEVERITY; FEEDING DISORDER; FEMALE; GENETIC CODE; GENETIC SCREENING; HAND SURGERY; HETEROZYGOTE; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN TISSUE; JAUNDICE; KARYOTYPE 46,XX; KARYOTYPING; MICROGNATHIA; MISSENSE MUTATION; MOLECULAR GENETICS; NEUROPSYCHOLOGICAL TEST; NEWBORN; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHENOTYPE; PHYSICAL EXAMINATION; PREGNANCY; PRIORITY JOURNAL; PTOSIS; SMITH LEMLI OPITZ SYNDROME; SYNDACTYLY;

GENETTA;

EID: 0142200977     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20491     Document Type: Article

References (22)

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