Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion

We report an original association of complex genetic defects in a patient carrying both an 11p paternal duplication, resulting in the double expression of insulin-like growth factor 2 (IGF2), as reported in Beckwith-Wiedemann syndrome, and a 15q terminal deletion, including the type 1 IGF receptor g...

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Bibliographic Details
Main Authors: Eloïse Giabicani, Sandra Chantot-Bastaraud, Adeline Bonnard, Myriam Rachid, Sandra Whalen, Irène Netchine, Frédéric Brioude
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-04-01
Series:Frontiers in Endocrinology
Subjects:
Beckwith-Wiedemann syndrome
IGF1 receptor
IGF-II
fetal growth restriction
imprinting disease
11p duplication
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2019.00263/full

Internet

https://www.frontiersin.org/article/10.3389/fendo.2019.00263/full

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