Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3-Reference-Cited by-同舟云学术

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Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3

Published:2017-06-28 Issue:8 Volume:5 Page:1277-1283
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Infante Elena¹^ORCID,Alkorta-Aranburu Gorka²,El-Gharbawy Areeg¹³

Affiliation:

1. Department of Pediatrics; Division of Medical Genetics; Children's Hospital of Pittsburgh of UPMC; Pittsburgh Pennsylvania

2. Department of Human Genetics; The University of Chicago; Chicago Illinois

3. University of Pittsburgh School of Medicine; Children's Hospital of Pittsburgh of UPMC; Pittsburgh Pennsylvania

Publisher

Wiley

Subject

General Medicine

Reference20 articles.

1. Descriptive epidemiology of Cornelia de Lange syndrome in Europe;Barisic;Am. J. Med. Genet. A,2008

2. Six cases of de Lange's syndrome; parental consanguinity in two;Pearce;Med. J. Aust.,1967

3. Cornelia de Lange syndrome;Boyle;Clin. Genet.,2015

4. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle;Deardorff;Nature,2012

5. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation;Deardorff;Am. J. Hum. Genet.,2007

Cited by 6 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. Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome;Molecular Genetics & Genomic Medicine;2024-05

2. Targeting cancers and metabolic disorders: The prospects of combining HDAC8 inhibitor and activator;European Journal of Medicinal Chemistry Reports;2023-04

3. A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review;Frontiers in Endocrinology;2021-09-30

4. A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome;Molecular Genetics & Genomic Medicine;2021-08-03

5. Parenchymal Organ Changes in Two Female Patients With Cornelia de Lange Syndrome: Autopsy Case Report;Cureus;2020-08-15

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