hrp0084fc4.2 | Growth | ESPE2015
Murray Philip G
, Alston Charlottle L
, He Langping
, McFarland Robert
, Shield Julian PH
, Morris Andrew A M
, Crushell Ellen
, Hughes Joanne
, Taylor Robert W
, Clayton Peter E
Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...