Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

• Main Authors: Petra Loid (Author), Marita Lipsanen-Nyman (Author), Sirpa Ala-Mello (Author), Katariina Hannula-Jouppi (Author), Juha Kere (Author), Outi Mäkitie (Author), Mari Muurinen (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Silver-Russell syndrome (SRS, OMIM 180860) is a rare imprinting disorder characterized by intrauterine and postnatal growth restriction, feeding difficulties in early childhood, characteristic facial features, and body asymmetry. The molecular cause most commonly relates to hypomethylation of the im...