Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart

Clinical Dysmorphology

Volumn 16, Issue 4, 2007, Pages 241-246

  Robert, Marie Leema P ^a,f   Lopez, Tony ^b   Crolla, John ^c   Huang, Shuwen ^c   Owen, Carol ^d   Burvill Holmes, Lisa ^d   Stumper, Oliver ^e   Turnpenny, Peter D ^a  

^a Peninsula Clinical Genetics Service   (United Kingdom)

^b DERRIFORD HOSPITAL   (United Kingdom)

^c National Genetics Reference Laboratory Wessex   (United Kingdom)

^d Regional Cytogenetics Service   (United Kingdom)

^e BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^f ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

Author keywords

Alagille syndrome; Deletion 20p 12.3; Deletion 20p12.2; Hypoplastic left heart syndrome; JAG1

Indexed keywords

ALAGILLE SYNDROME; ARTICLE; CASE REPORT; CHROMOSOME 20P; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; HAPLOTYPE; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; INFANT; LEARNING DISORDER; LIVER FUNCTION TEST; MALE; PRIORITY JOURNAL;

ALAGILLE SYNDROME; CALCIUM-BINDING PROTEINS; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 20; HUMANS; HYPOPLASTIC LEFT HEART SYNDROME; INFANT; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; KARYOTYPING; MALE; MEMBRANE PROTEINS;

EID: 34548433137     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3282358d21     Document Type: Article

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