Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS)
Source: Pediatric Rheumatology
New pathogenic variant c.3855+4A>G in the NIPBL gene associated with Cornelia de Lange syndrome type 1 (OMIM#122470)
Source: Anales de Pediatria
A case of Cornelia de Lange syndrome caused by a new variant of NIPBL gene (c.7201G > T)
Source: Chinese Journal of Primary Medicine and Pharmacy
Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant
Source: Molecular Syndromology
A De Novo Frameshift Variant in SMC1A Causes Non-Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review
Source: Molecular Genetics and Genomic Medicine
For Patient Families
To support patients and caregivers, Elsevier Health is making the latest research on these rare disorders available upon request at no cost.
Learn More
Note:
User acknowledges that these materials are provided for use at no charge as part of Elsevier’s efforts to support healthcare providers and patients. The information contained within the website is intended as a supplement to, and not a substitute for, the knowledge, expertise, skill and judgment of healthcare professionals involved in patient care. The content within this page may not be re-used, modified or re-distributed without prior written permission.
Cookies are used by this site. To decline or learn more, visit our cookie notice.
Copyright © 2024 Elsevier, its licensors, and contributors. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
