Familial 3M Syndrome – as an Example of Diagnostic Difficulties in Rare Genetic Syndromes
This is the first description of a familial syndrome from a local population. Identifying new gene variants has helped expand the spectrum of variations associated with the pathogenesis of 3M syndrome. The expanding database of genetic variants, combined with knowledge of the spectrum and severity of a patient's clinical symptoms, provides the opportunity to identify genotype-phenotype correlation relevant to medical care.
Authors
- Maciej Pasiński
- Magdalena Pasińska (ORCID: https://orcid.org/0000-0002-9434-9697)
- Joanna Rusecka (ORCID: https://orcid.org/0000-0002-6936-9645)
- Agnieszka Sobczyńska‐Tomaszewska (ORCID: https://orcid.org/0000-0003-1603-817X)
Institutions
- Medical University of Warsaw (PL)
- Nicolaus Copernicus University (PL)
- Antoni Jurasz University Hospital (PL)
Publication Details
- Journal
- The Application of Clinical Genetics
- Published
- 2025-10-01
- DOI
- https://doi.org/10.2147/tacg.s535270
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00