Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy

American Journal of Human Genetics

Volumn 69, Issue 2, 2001, Pages 291-300

  Graham, John M ^a   Anyane Yeboa, Kwame ^b   Raams, Anja ^d   Appeldoorn, Esther ^d   Kleijer, Wim J ^d   Garritsen, Victor H ^d   Busch, David ^e   Edersheim, Terri G ^c   Jaspers, Nicolaas G J ^d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b Columbia University ^*  (United States)

^c Division of Maternal and Fetal Medicine   (United States)

^d ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^e ARMED FORCES INSTITUTE OF PATHOLOGY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BRAIN ATROPHY; BRAIN CALCIFICATION; CASE REPORT; CATARACT; COCKAYNE SYNDROME; COFS SYNDROME; CORNEA DISEASE; DIFFERENTIAL DIAGNOSIS; EXCISION REPAIR; GENE MUTATION; GROWTH DISORDER; HEREDITARY OPTIC ATROPHY; HUMAN; INFANT; JOINT CONTRACTURE; MALE; MULTIPLE PREGNANCY; NEUROLOGIC DISEASE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RADIOSENSITIVITY; RECESSIVE INHERITANCE; TRICHOTHIODYSTROPHY; ULTRAVIOLET RADIATION; XERODERMA PIGMENTOSUM;

EID: 0034927859     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/321295     Document Type: Article

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