Novel Mutations and Genes That Impact on Growth in Short Stature of Undefined Aetiology: The EPIGROW Study.
Reena PerchardPhilip George MurrayAntony PaytonGeorgina Lee HightonAndrew WhatmorePeter Ellis ClaytonPublished in: Journal of the Endocrine Society (2020)
Such panels improve diagnosis in SS-UA, extending known disease phenotypes. Fourteen genes related to SS included some known to cause growth disorders as well as novel targets.