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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Detalles Bibliográficos
Autores principales: Loid, Petra, Lipsanen-Nyman, Marita, Ala-Mello, Sirpa, Hannula-Jouppi, Katariina, Kere, Juha, Mäkitie, Outi, Muurinen, Mari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578642/
https://www.ncbi.nlm.nih.gov/pubmed/36268036
http://dx.doi.org/10.3389/fped.2022.969881

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578642/
https://www.ncbi.nlm.nih.gov/pubmed/36268036
http://dx.doi.org/10.3389/fped.2022.969881

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