MICRO syndrome: An entity distinct from COFS syndrome

American Journal of Medical Genetics

Volumn 128 A, Issue 3, 2004, Pages 235-245

  Graham Jr , John M ^a,f   Hennekam, Raoul ^b   Dobyns, William B ^c   Roeder, Elizabeth ^d   Busch, David ^e  

^a Steven Spielberg Pediatric Research Center   (United States)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF CHICAGO   (United States)

^d Child Hosp Ctrl California/UCSF   (United States)

^e ARMED FORCES INSTITUTE OF PATHOLOGY   (United States)

^f CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Cerebro Oculo Facial Skeletal (COFS) syndrome; Cockayne syndrome; Congenital cataracts; Cortical dysplasia; MICRO syndrome; Microcephaly; Microcornea; Nucleotide excision repair; Ultraviolet radiation sensitivity

Indexed keywords

DNA;

BLINDNESS; BRAIN ATROPHY; CATARACT; COCKAYNE SYNDROME; COFS SYNDROME; CONGENITAL CATARACT; CORNEA DISEASE; CORPUS CALLOSUM; DIFFERENTIAL DIAGNOSIS; EXCISION REPAIR; FIBROBLAST CULTURE; GROWTH DISORDER; HUMAN; HYPOGONADISM; JOINT CONTRACTURE; MENTAL RETARDATION MALFORMATION SYNDROME; MICRO SYNDROME; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; REVIEW; SYNDROME DELINEATION; ULTRAVIOLET RADIATION; VISUAL IMPAIRMENT;

EID: 3042845833     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30060     Document Type: Review

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