Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 154, Issue 1, 2010, Pages 142-145

  Weaver, David D ^a   Solomon, Benjamin D ^b   Akin Samson, Kelly ^c,d   Kelley, Richard I ^e,f   Muenke, Maximilian ^b  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c INDIANA UNIVERSITY   (United States)

^d Kennedy Krieger Institute ^*

^e KENNEDY KRIEGER INSTITUTE   (United States)

^f JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

7 dehydrocholesterol; Birth defects; Cholesterol; Cyclopia; Holoprosencephaly; Smith Lemli Opitz syndrome; Synophthalmia

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; SONIC HEDGEHOG PROTEIN;

ARTICLE; CASE REPORT; CHOLESTEROL METABOLISM; CLINICAL FEATURE; CYCLOPIA; DHCR7 GENE; FETUS; GENE; GENE DELETION; HOLOPROSENCEPHALY; HUMAN; MALE; PRIORITY JOURNAL; SMITH LEMLI OPITZ SYNDROME;

ABORTED FETUS; ADOLESCENT; FEMALE; HOLOPROSENCEPHALY; HUMANS; PREGNANCY; SMITH-LEMLI-OPITZ SYNDROME;

ERINACEIDAE;

EID: 76149145050     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30241     Document Type: Article

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