Ontology highlight
ABSTRACT:
SUBMITTER: Giabicani E
PROVIDER: S-EPMC6503735 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Giabicani Eloïse E Chantot-Bastaraud Sandra S Bonnard Adeline A Rachid Myriam M Whalen Sandra S Netchine Irène I Brioude Frédéric F
Frontiers in endocrinology 20190430
We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double expression of <i>insulin-like growth factor 2 (IGF2)</i>, as reported in Beckwith-Wiedemann syndrome, and a 15q terminal deletion, including the <i>type 1 IGF receptor gene</i> (<i>IGF1R</i>), resulting in haploinsufficiency for this gene. The patient was born with measurements appropriate for her gestational age but experienced growth retardation in early ...[more]