A microdeletion at 12q24.31 can mimic Beckwith-Wiedemann syndrome neonatally

Molecular Syndromology

Volumn 1, Issue 1, 2010, Pages 42-45

  Baple, E ^a   Palmer, R ^a   Hennekam, R C M ^a,b,c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

ACADS; Anxieties; Beckwith Wiedemann syndrome; Contiguous gene syndrome; Deletion 12q24.31; HNF1A; Macroglossia; Neonatal hyperinsulinism; Overgrowth; P2RX7

Indexed keywords

4 HYDROXYPHENYLPYRUVATE DIOXYGENASE; ACYL COENZYME A DEHYDROGENASE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; PROTEIN BCL 7A; PURINERGIC P2X7 RECEPTOR; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ADOLESCENT; ANXIETY DISORDER; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTIGUOUS GENE SYNDROME; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENETIC POLYMORPHISM; GROWTH DISORDER; HUMAN; HYPOGLYCEMIA; MICROARRAY ANALYSIS; PRIORITY JOURNAL; RECURRENT DISEASE; SYNDROME DELINEATION;

EID: 79952213882     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000275671     Document Type: Article

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