Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/0002-9149(66)90202-5 | DOI Listing |
Publication Analysis
Top Keywords
familial ebstein's
4
ebstein's anomaly
4
anomaly emphasis
4
emphasis surgical
4
surgical treatment
4
familial
1
anomaly
1
emphasis
1
surgical
1
treatment
1
Similar Publications
Recurrent FLNA p.Gly1554Arg Variant Associated With Familial Ebstein Anomaly and Joint Stiffness.
Am J Med Genet A
December 2024
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select
October 2024
Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Ann Neurol
September 2024
Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.
Article Synopsis
- - This study examines the link between rare variants in the cullin-3 ubiquitin ligase (CUL3) gene and neurodevelopmental disorders (NDDs), gathering data from multiple centers to explore genetic mutations and their clinical impacts.
- - Researchers identified 37 individuals with CUL3 variants, most of which result in loss-of-function (LoF), leading to intellectual disabilities and possibly autistic traits; specific mechanisms affecting protein stability were also investigated.
- - The findings enhance the understanding of NDDs associated with CUL3 mutations, suggesting that LoF variants are the main cause, which could help inform future diagnostics and treatment strategies.
Article Synopsis
- - The text discusses a type of tachycardia characterized by a regularly irregular rhythm, which includes various potential causes.
- - It presents a specific case involving a patient with Ebstein's anomaly who experienced cycle length alternans tachycardia.
- - The diagnosis was confirmed through a detailed examination of the patient's electrocardiogram (ECG) and electrogram (EGM) data.
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Res Sq
June 2024
Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.
Article Synopsis
- Dysmorphologists face challenges due to the diverse phenotypic variability of human faces, particularly when using Next-Generation Phenotyping (NGP) tools, which are often trained on limited data.
- To address this, the GestaltMatcher Database (GMDB) was created, compiling over 10,980 facial images from various global populations, significantly improving the representation of underrepresented ancestries, especially African and Asian patients.
- The study found that incorporating data from non-European patients enhanced NGP accuracy by over 11% without compromising performance for European patients, highlighting the importance of diverse datasets in identifying genetic disorders.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!