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

Calton, Elizabeth A

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. [electronic resource] - European journal of medical genetics Feb 2013 - 114-7 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2012.12.001 doi


ATP-Binding Cassette Transporters--genetics
Chromosomes, Human, Pair 11
Congenital Hyperinsulinism--complications
Hepatoblastoma--diagnosis
Humans
Infant
Liver Neoplasms--diagnosis
Male
Microsatellite Repeats
Mosaicism
Mutation
Positron-Emission Tomography
Potassium Channels, Inwardly Rectifying--genetics
Receptors, Drug--genetics
Sulfonylurea Receptors
Tomography, X-Ray Computed
Uniparental Disomy