Rare De Novo IGF2 Variant on the Paternal Allele in a Patient With Silver–Russell Syndrome

Silver–Russell syndrome (SRS) is a rare, well-recognized disorder characterized by growth restriction, including intrauterine and postnatal growth. Most SRS cases are caused by hypomethylation of the paternal imprinting center 1 (IC1) in chromosome 11p15.5 and maternal uniparental disomy in chromoso...

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Detalles Bibliográficos
Autores principales: Xia, Chun-Ling, Lyu, Yuan, Li, Chuang, Li, Huan, Zhang, Zhi-Tao, Yin, Shao-Wei, Mao, Yan, Li, Wen, Kong, Ling-Yin, Liang, Bo, Jiang, Hong-Kun, Li-Ling, Jesse, Liu, Cai-Xia, Wei, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6872539/
https://www.ncbi.nlm.nih.gov/pubmed/31803239
http://dx.doi.org/10.3389/fgene.2019.01161

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6872539/
https://www.ncbi.nlm.nih.gov/pubmed/31803239
http://dx.doi.org/10.3389/fgene.2019.01161

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