Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

Molecular Cytogenetics

Volumn 5, Issue 1, 2012, Pages

  Ferreira, Susana Isabel ^a   Matoso, Eunice ^a   Venncio, Margarida ^b   Saraiva, Jorge ^b   Melo, Joana B ^a   Carreira, Isabel Marques ^a  

^a UNIVERSITY OF COIMBRA   (Portugal)

^b CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

Author keywords

2q31.2q32.3 deletion; Alagille syndrome; Critical region

Indexed keywords

ALAGILLE SYNDROME; ARTICLE; BEHAVIOR DISORDER; CASE REPORT; CHILD; CHROMOSOME 20P; CHROMOSOME 2Q31.2Q32.3 DELETION SYNDROME; CHROMOSOME DELETION; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE; HAPLOINSUFFICIENCY; HUMAN; JAG1 GENE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SYMPTOM;

EID: 84862182468     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-5-25     Document Type: Article

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