A 8.26 Mb deletion in 6q16 and a 4.95 Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome

European Journal of Medical Genetics

Volumn 51, Issue 6, 2008, Pages 651-657

  Le Gloan, Laurianne ^a,b,c,d   Pichon, Olivier ^a   Isidor, Bertrand ^a   Boceno, Michelle ^a   Rival, Jean Marie ^a   David, Albert ^a   Le Caignec, Cédric ^a,b,c,d  

^a NANTES UNIVERSITY HOSPITAL   (France)

^b L INSTITUT DU THORAX   (France)

^c CNRS   (France)

^d UNIVERSITÉ DE NANTES   (France)

Author keywords

20p; aCGH; Alagille syndrome; Array CGH; BMP2; Deletion; JAG1; Ventricular preexcitation; Wolff Parkinson White syndrome

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; JAGGED1; CALCIUM BINDING PROTEIN; MEMBRANE PROTEIN; SERRATE PROTEINS; SIGNAL PEPTIDE; UNCLASSIFIED DRUG;

ALAGILLE SYNDROME; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 20P; CHROMOSOME 6Q; DNA MICROARRAY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE TRANSLOCATION; HUMAN; KARYOTYPE; WOLFF PARKINSON WHITE SYNDROME; CHROMOSOME 20; CHROMOSOME 6; CHROMOSOME DELETION; GENETICS; MALE; NEWBORN;

ALAGILLE SYNDROME; BONE MORPHOGENETIC PROTEIN 2; CALCIUM-BINDING PROTEINS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 20; CHROMOSOMES, HUMAN, PAIR 6; HUMANS; INFANT, NEWBORN; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; WOLFF-PARKINSON-WHITE SYNDROME;

EID: 56949097590     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.07.012     Document Type: Article

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