ea0066oc4.7 | Oral Communications 4 | BSPED2019
Chatterjee Sumana
, Bertola Debora
, Agwu Chizo
, Karantza Maria
, Cottrell Emily
, Shapiro Lucy
, Maharaj Avinaash V
, Williams Jack
, Savage Martin O
, Gaston-Massuet Carles
, Metherell Louise A
, Storr Helen L
Objectives: Noonan Syndrome (NS) is an autosomal dominant multi-system disorder characterised by short stature (SS), distinctive facial features and cardiovascular abnormalities. Mutations in multiple genes regulating the RAS-MAPK pathway have been identified in NS including 5 recently described novel LZTR1 variants. We identified 2 novel LZTR1 variants in patients with features of growth hormone insensitivity and NS. The molecular function of LZTR1 ...