Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement-Reference-Cited by-同舟云学术

Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement

Published:2021-07-05 Issue:10 Volume:185 Page:3136-3145
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Brereton Rebecca E.¹^ORCID,Nickerson Sarah L.¹,Woodward Karen J.¹²,Edwards Tracey¹,Sivamoorthy Soruba¹,Ramos Vasques Walters Fabiana¹,Chabros Vicki¹,Marchin Vanessa¹,Grumball Tanya¹,Kennedy Dagmara¹,Uzaraga Joan¹,Peverall Joanne¹,Arscott Gillian¹,Beilby John¹²³,Choong Catherine S.⁴⁵,Townshend Sharron⁶,Azmanov Dimitar N.¹²

Affiliation:

1. Department of Diagnostic Genomics, PathWest Laboratory Medicine QEII Medical Centre Nedlands Western Australia Australia

2. Pathology and Laboratory Medicine, Medical School The University of Western Australia Faculty of Health and Medical Sciences Perth Western Australia Australia

3. The University of Western Australia School of Biomedical Sciences Nedlands Western Australia Australia

4. Department of Endocrinology Perth Children's Hospital Nedlands Western Australia Australia

5. Paediatrics, Medical School, Faculty of Health and Medical Sciences The University of Western Australia Perth Western Australia Australia

6. Genetic Services of Western Australia, King Edward Memorial Hospital Subiaco Western Australia Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62391

Reference19 articles.

1. Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

2. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

3. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases

4. The Endocrine Phenotype in Silver-Russell Syndrome Is Defined by the Underlying Epigenetic Alteration

5. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype

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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: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant;Frontiers in Endocrinology;2024-03-26

3. Exploring the Diet-Gut Microbiota-Epigenetics Crosstalk Relevant to Neonatal Diabetes;Genes;2023-04-29

4. Routine Diagnostics Confirm Novel Neurodevelopmental Disorders;Genes;2022-12-07

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