ea0051oc5.7 | Oral Communications 5 | BSPED2017
Foster Alison
, Antoniadi Thalia
, Wallis Yvonne
, Griffiths Mike
, Lim Derek
, Cole Trevor
, Barrett Tim
Introduction: Rare genetic overgrowth disorders are a group of conditions characterised by height and/or head circumference >2 S.D. above the mean for age and sex, learning disability, congenital anomalies, and in some cases childhood tumours. POD is a national cohort study that includes a next generation sequencing (NGS) panel of overgrowth genes. We present a new model for clinical confirmation of pathogenic variants identified by this research panel. Clin...