12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.
Francesca MercadanteMartina BusèEmanuela SalzanoTiziana FragapaneDaniela PalazzoMichela MalacarneMaria PiccionePublished in: Italian journal of pediatrics (2020)
Our report confirms the etiological role of HMGA2 as a disease gene in the development of a SRS-like phenotype.