Searchable abstracts of presentations at key conferences in endocrinology

ea0034p165 | Growth and development | SFEBES2014

Altered frequency of sequence variants in growth-related genes in children with short stature

Murray Philip , Stevens Adam , Hanson Daniel , Whatmore Andrew , Bonnemarie Mireille , Naudin Laurent , Dutailly Pascale , Denefle Patrice , Clayton Peter

Background: Many children with short stature (defined as height SDS <−2 S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age (SGA) or idiopathic short stature (ISS) depending on birth size. Adult height is a polygenic trait and has been associated with >180 single nucleotide polymorphisms (SNPs) to date. We hypothesized that sequence variants (SNPs or insertion/deletions (indels)) in cand...