Metabolic Dysfunction-Associated Steatotic Liver Disease in a Patient with Phelan–McDermid Syndrome
We highlight the contribution of <i>PNPLA3</i> to MASLD in PMS and support systematic hepatic monitoring. Genotype-phenotype associations in PMS may provide insights relevant to MASLD research and clinical management.
Authors
- Sara M. Sarasua (ORCID: https://orcid.org/0000-0002-1625-7404)
- Giuseppe Guido Maria Scarlata (ORCID: https://orcid.org/0000-0002-7084-8264)
- Curtis Rogers (ORCID: https://orcid.org/0000-0003-4993-5774)
- Luigi Boccuto (ORCID: https://orcid.org/0000-0003-2017-4270)
- Bridgette A. Moffitt (ORCID: https://orcid.org/0000-0002-5906-2391)
- Ludovico Abenavoli (ORCID: https://orcid.org/0000-0002-5922-1524)
- Katy Phelan (ORCID: https://orcid.org/0000-0003-2457-6226)
Institutions
- Magna Graecia University (IT)
- Florida Cancer Specialists & Research Institute (US)
- Greenwood Genetic Center (US)
- Clemson University (US)
Publication Details
- Journal
- Life
- Published
- 2025-10-11
- DOI
- https://doi.org/10.3390/life15101586
- Citations
- 1
- Primary Topic
- Liver Disease Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 1.35