Naik, Swati

Large de novo deletion of 7p15.1 to 7p12.1 involving the imprinted gene GRB10 associated with a complex phenotype including features of Beckwith Wiedemann syndrome. [electronic resource] - European journal of medical genetics - 89-93 p. digital

Publication Type: Case Reports; Letter

1878-0849

10.1016/j.ejmg.2010.09.006 doi


Abnormalities, Multiple--genetics
Beckwith-Wiedemann Syndrome--pathology
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 7--genetics
GRB10 Adaptor Protein--genetics
Genomic Imprinting
Heart Defects, Congenital--pathology
Humans
Hyperglycemia--pathology
Infant
Karyotyping
Male
Phenotype
Skull--abnormalities