12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature

• Main Authors: Francesca Mercadante (Author), Martina Busè (Author), Emanuela Salzano (Author), Tiziana Fragapane (Author), Daniela Palazzo (Author), Michela Malacarne (Author), Maria Piccione (Author)
• Format: Book
• Published: BMC, 2020-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. Addictional findings are protruding forehead in early life, body asymmetry (of upper and lower l...