Combination of WAGR and Potocki-Schaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion

European Journal of Human Genetics

Volumn 13, Issue 4, 2005, Pages 409-413

  Brémond Gignac, Dominique ^a,b   Crolla, John A ^c   Guichet, Agnès ^d   Bonneau, Dominique ^e   Taine, Laurence ^f   Lacombe, Didier ^f   Baumann, Clarisse ^a   Benzacken, Brigitte ^g   Verloes, Alain ^a,b  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b INSERM   (France)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^d HÔPITAL LARIBOISIÈRE   (France)

^e ANGERS UNIVERSITY HOSPITAL   (France)

^f HÔPITAL PELLEGRIN   (France)

^g HÔPITAL JEAN VERDIER   (France)

Author keywords

Contiguous gene deletion syndrome; Exostosis; Obesity; Potocki Schaffer syndrome; WAGR; WAGRO

Indexed keywords

ADULT; ANIRIDIA; ARTICLE; CASE REPORT; CHROMOSOME 11P; CHROMOSOME DELETION; CLINICAL FEATURE; COSMID; CRANIOFACIAL SYNOSTOSIS; CYTOGENETICS; FACE DYSMORPHIA; FEMALE; FOLLOW UP; GENE DELETION; GROWTH RETARDATION; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; MALFORMATION SYNDROME; MENTAL DEFICIENCY; NEPHROBLASTOMA; OBESITY; POTOCKI SHAFFER SYNDROME; PRIORITY JOURNAL; UROGENITAL TRACT MALFORMATION; WAGR SYNDROME;

ADOLESCENT; ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CRANIOFACIAL DYSOSTOSIS; EXOSTOSES, MULTIPLE HEREDITARY; FEMALE; GENE DELETION; HUMANS; KARYOTYPING; OBESITY; PARIETAL BONE; SYNDROME; WAGR SYNDROME;

EID: 17144430529     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201358     Document Type: Article

References (16)

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