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De Novo Mutation of Paternal IGF2 Gene Causing Silver–Russell Syndrome in a Sporadic Patient
Silver–Russell syndrome (SRS) is a rare, but well-recognized disease characterized by growth disorder. To date, there are two reports arguing IGF2 mutation for the onset of SRS. Herein, we present another sporadic case harboring IGF2 mutation. The male proband was the first and only child of a non-c...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550680/ https://www.ncbi.nlm.nih.gov/pubmed/28848601 http://dx.doi.org/10.3389/fgene.2017.00105 |