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...
Váldodahkkit: | Chun-Ling Xia, Yuan Lyu, Chuang Li, Huan Li, Zhi-Tao Zhang, Shao-Wei Yin, Yan Mao, Wen Li, Ling-Yin Kong, Bo Liang, Hong-Kun Jiang, Jesse Li-Ling, Cai-Xia Liu, Jun Wei |
---|---|
Materiálatiipa: | Artihkal |
Giella: | English |
Almmustuhtton: |
Frontiers Media S.A.
2019-11-01
|
Ráidu: | Frontiers in Genetics |
Fáttát: | |
Liŋkkat: | https://www.frontiersin.org/article/10.3389/fgene.2019.01161/full |
Geahča maid
-
De Novo Mutation of Paternal IGF2 Gene Causing Silver–Russell Syndrome in a Sporadic Patient
Dahkki: Deguo Liu, et al.
Almmustuhtton: (2017-08-01) -
Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome
Dahkki: Petra Loid, et al.
Almmustuhtton: (2022-10-01) -
Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant
Dahkki: Silvia Ventresca, et al.
Almmustuhtton: (2024-03-01) -
Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review
Dahkki: Kaori Yamoto, et al.
Almmustuhtton: (2024-06-01) -
<it>IGF2</it>/<it>H19</it> hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome
Dahkki: Kannenberg Kai, et al.
Almmustuhtton: (2012-09-01)