Cerebro-oculo-facio-skeletal syndrome: Three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

Journal of Medical Genetics

Volumn 45, Issue 9, 2008, Pages 564-571

  Laugel, Vincent ^a   Dalloz, C ^a   Tobias, E S ^b   Tolmie, J L ^b   Martin Coignard, D ^c   Drouin Garraud, V ^d   Valayannopoulos, V ^e   Sarasin, A ^f   Dollfus, H ^a  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b UNIVERSITY OF GLASGOW   (United Kingdom)

^c University Hospital   (France)

^d ROUEN UNIVERSITY HOSPITAL   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f INSTITUT GUSTAVE ROUSSY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENE PRODUCT; PROTEIN CSB; UNCLASSIFIED DRUG;

ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CELL SURVIVAL; CLINICAL FEATURE; COCKAYNE SYNDROME; COFS SYNDROME; CONGENITAL CATARACT; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; DNA REPAIR; DNA SEQUENCE; FACE DYSMORPHIA; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; GENETIC TRANSFECTION; GROWTH DISORDER; HUMAN; INFANT FEEDING; MALE; MICROCEPHALY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NEWBORN; PERINATAL PERIOD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; RNA SEQUENCE; ULTRAVIOLET RADIATION; WESTERN BLOTTING;

AMINO ACID SEQUENCE; ARTHROGRYPOSIS; BLOTTING, WESTERN; CATARACT; CELL SURVIVAL; CELLS, CULTURED; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA REPAIR; DNA REPAIR ENZYMES; FACIES; FEMALE; GENETIC COMPLEMENTATION TEST; HUMANS; INFANT, NEWBORN; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; SEQUENCE ALIGNMENT; SYNDROME;

EID: 51849110284     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.057141     Document Type: Article

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