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

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

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...

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Bibliographic Details
Main Authors: Petra Loid, Marita Lipsanen-Nyman, Sirpa Ala-Mello, Katariina Hannula-Jouppi, Juha Kere, Outi Mäkitie, Mari Muurinen
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Pediatrics
Subjects:
IGF2
short stature
Silver-Russell
intrauterine growth restriction
exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.969881/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.969881/full

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