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...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , , |
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| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Frontiers Media S.A.
2022-10-01
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| سلاسل: | Frontiers in Pediatrics |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://www.frontiersin.org/articles/10.3389/fped.2022.969881/full |
| الوسوم: |
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