Two novel cases expanding the phenotype of SETD2 ‐related overgrowth syndrome-Reference-Cited by-同舟云学术

Two novel cases expanding the phenotype of SETD2 ‐related overgrowth syndrome

Published:2018-04-21 Issue:5 Volume:176 Page:1212-1215
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

van Rij Maartje C.¹²^ORCID,Hollink Iris H. I. M.²,Terhal Paulien Anna³^ORCID,Kant Sarina G.¹,Ruivenkamp Claudia¹,van Haeringen Arie¹,Kievit J. Anneke²,van Belzen Martine J.¹

Affiliation:

1. Department of Clinical GeneticsLeiden University Medical CentreLeiden The Netherlands

2. Department of Clinical GeneticsErasmus University Medical Center RotterdamRotterdam The Netherlands

3. Department of GeneticsUniversity Medical Centre UtrechtUtrecht The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38666

Reference10 articles.

1. Risk of malignancy in Sotos syndrome

2. SETD2 loss-of-function promotes renal cancer branched evolution through replication stress and impaired DNA repair

3. Loss of SETD2, but not H3K36me3, correlates with aggressive clinicopathological features of clear cell renal cell carcinoma patients

4. Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy

5. Mutations inSETD2cause a novel overgrowth condition

Cited by 19 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. Epigenetic regulation of craniofacial development and disease;Birth Defects Research;2023-11-14

2. Cellular and molecular functions of SETD2 in the central nervous system;Journal of Cell Science;2023-11-01

3. Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature;Genes;2023-05-29

4. Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders;Human Molecular Genetics;2023-05-11

5. A novel SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy;Frontiers in Genetics;2023-03-21