TY  - GEN
AU  - Naik,Swati
AU  - Riordan-Eva,Elliott
AU  - Thomas,N Simon
AU  - Poole,Rebecca
AU  - Ashton,Mark
AU  - Crolla,John A
AU  - Temple,I Karen
TI  - 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
SN  - 1878-0849
PY  - 2011///0614
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Beckwith-Wiedemann Syndrome
KW  - pathology
KW  - Chromosome Banding
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 7
KW  - GRB10 Adaptor Protein
KW  - Genomic Imprinting
KW  - Heart Defects, Congenital
KW  - Humans
KW  - Hyperglycemia
KW  - Infant
KW  - Karyotyping
KW  - Male
KW  - Phenotype
KW  - Skull
KW  - abnormalities
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1016/j.ejmg.2010.09.006
ER  -