Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1-Reference-Cited by-同舟云学术

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1

Published:2021-10 Issue:4 Volume:30 Page:194-196
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Fernández-Fructuoso José Ramón,De la Torre-Sandoval Cristina,Harbison Madeleine D.,Chantot-Bastaraud Sandra,Temple Karen,Lloreda-Garcia Jose Maria,Olmo-Sanchez Maria,Netchine Irene

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference8 articles.

1. Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.;Abi Habib;Genet Med,2018

2. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.;Azzi;J Med Genet,2015

3. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.;Gicquel;Nat Genet,2005

4. Functions of the Lyn tyrosine kinase in health and disease.;Ingley;Cell Commun Signal,2012

5. Analysis of protein-coding genetic variation in 60,706 humans.;Lek;Nature,2016

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Prenatal diagnosis of Silver–Russell syndrome with 8q12 deletion including the PLAG1 gene: a case report and review;Frontiers in Genetics;2024-05-17

2. Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome;Frontiers in Pediatrics;2022-10-04

3. Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes;Molecular Cytogenetics;2022-05-13