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SMAD4 Pathogenic Variants in Seven New Brazilian Individuals With Myhre Syndrome Including a New Family.
Am J Med Genet A
January 2025
Medical Genetics and Genomic Medicine-Department of Translational Medicine, School of Medical Sciences, Campinas, Brazil.
Myhre syndrome is a rare disorder caused by pathogenic gain-of-function variants in the SMAD4 gene. Most of the patients have had de novo variants. There are several instances of autosomal dominant inheritance, and penetrance appears to be complete.
View Article and Find Full Text PDFSpontaneous Coronary Artery Dissection: Current Knowledge, Research Gaps, and Innovative Research Initiatives: Advances Expert Panel.
JACC Adv
December 2024
Sanger Heart & Vascular Institute, Atrium Health, Charlotte, North Carolina, USA.
Article Synopsis
- Despite progress in recognizing and diagnosing spontaneous coronary artery dissection (SCAD) in the last decade, there is still limited understanding of its mechanisms, contributing factors, and effective treatments.
- The text highlights research gaps in SCAD and suggests strategies like patient advocacy, independent registries, and specialized centers to improve clinical care and research outcomes.
- Additionally, it presents a patient-centered clinical care and research framework developed by the SCAD Alliance and International SCAD registry as a model to enhance understanding and management of this condition.
Myhre syndrome: case report.
Med Clin (Barc)
January 2025
Unidad de Genética Clínica, Servicio de Medicina Interna, Hospital Universitario Príncipe de Asturias, Universidad de Alcalá, Alcalá de Henares (Madrid), España.
The Myhre Syndrome Foundation as a global modern support group: The business of rare.
Am J Med Genet C Semin Med Genet
December 2024
Genetics, Children's Nebraska, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Advocacy support groups grow into national and international organizations, but they all begin with personal experiences. As the parents to a newly diagnosed two-year-old son with Myhre syndrome, my husband and I were overwhelmed with the journey ahead. Thanks to networking, primarily through social media, we located other families living with Myhre syndrome and were quickly immersed in the challenges and joy of this community.
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