Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation

European Journal of Medical Genetics

Volumn 51, Issue 6, 2008, Pages 598-607

  Doco Fenzy, Martine ^a   Landais, Emilie ^a   Andrieux, Joris ^b   Schneider, Anouck ^a   Delemer, Brigitte ^c   Sulmont, Véronique ^d   Melin, Jean Pierre ^c   Ploton, Dominique ^a   Thevenard, Jessica ^e   Monboisse, Jean Claude ^e   Belouadah, Mohamed ^a   Lefebvre, Francis ^a   Durlach, Anne ^c   Goossens, Michel ^f   Albuisson, Juliette ^f   Motte, Jacques ^d   Gaillard, Dominique ^a  

^a UFR de medecine   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c REIMS UNIVERSITY HOSPITAL   (France)

^d AMERICAN MEMORIAL HOSPITAL   (France)

^e UFR Sciences Exactes et Naturelles   (France)

^f ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Abnormal minora labia; Asymmetric lower limbs; COL4A3; COL4A4; Dysmorphism; Mental retardation; Multiple renal cysts; TRIP12

Indexed keywords

ADOLESCENT; ARTICLE; BASEMENT MEMBRANE; CASE REPORT; CHROMOSOME 2Q; COL4A3 GENE; COL4A4 GENE; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE SEVERITY; DYSPLASIA; ELECTRON MICROSCOPY; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DISRUPTION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENITAL MALFORMATION; HUMAN; HUMAN GENOME; HUMAN TISSUE; KIDNEY CYST; KIDNEY HYPERTROPHY; LEG MALFORMATION; MENTAL DEFICIENCY; NERVE CELL MEMBRANE; PATELLA; PHENOTYPE; SKIN BIOPSY;

EID: 56949102742     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.08.002     Document Type: Article

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