Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism

European Journal of Medical Genetics

Volumn 56, Issue 2, 2013, Pages 114-117

  Calton, Elizabeth A ^a,b   Temple, I Karen ^b,c   Mackay, Deborah J G ^b,c   Lever, Margaret ^c   Ellard, Sian ^d   Flanagan, Sarah E ^d   Davies, Justin H ^a   Hussain, Khalid ^e   Gray, Juliet C ^a,b  

^a UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^d UNIVERSITY OF EXETER   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Beckwith Wiedemann syndrome; Chromosome 11p; Congenital hyperinsulinaemic hypoglycaemia; Hepatoblastoma; Uniparental disomy

Indexed keywords

6 FLUORODOPA F 18; ABCC8 PROTEIN; ALBUMIN; ALPHA FETOPROTEIN; GLUCOSE; HEMOGLOBIN; INSULIN; MICROSATELLITE DNA; PROTEIN; UNCLASSIFIED DRUG;

ABDOMINAL DISCOMFORT; ALBUMIN BLOOD LEVEL; ARTICLE; BIRTH WEIGHT; CASE REPORT; CESAREAN SECTION; CHROMOSOME 11P; COMPUTER ASSISTED TOMOGRAPHY; DNA DETERMINATION; EMERGENCY SURGERY; FEVER; FRAMESHIFT MUTATION; GENE MUTATION; GLUCOSE INFUSION; HEAD CIRCUMFERENCE; HEMOGLOBIN BLOOD LEVEL; HEPATOBLASTOMA; HEPATOSPLENOMEGALY; HETEROZYGOSITY; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; INFANT; INSULIN BLOOD LEVEL; INTERNATIONAL NORMALIZED RATIO; LIVER BIOPSY; LIVER FUNCTION TEST; LIVER HEMATOMA; LUNG BIOPSY; LUNG METASTASIS; LUNG NODULE; MACROSOMIA; MALE; MICROCYTIC ANEMIA; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; NEUTROPHIL COUNT; NEUTROPHILIA; NUCLEOTIDE SEQUENCE; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; POSITRON EMISSION TOMOGRAPHY; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; RECESSIVE INHERITANCE; STOMACH DISTENSION; UNIPARENTAL DISOMY;

ATP-BINDING CASSETTE TRANSPORTERS; CHROMOSOMES, HUMAN, PAIR 11; CONGENITAL HYPERINSULINISM; HEPATOBLASTOMA; HUMANS; INFANT; LIVER NEOPLASMS; MALE; MICROSATELLITE REPEATS; MOSAICISM; MUTATION; POSITRON-EMISSION TOMOGRAPHY; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; TOMOGRAPHY, X-RAY COMPUTED; UNIPARENTAL DISOMY;

EID: 84873190551     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.12.001     Document Type: Article

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