A Novel PNPLA2 Variant in a Female Patient with Neutral Lipid Storage Disease with Myopathy and Hypogonadotropic Hypogonadism
This case underscores the significance of genetic testing in elucidating the molecular basis of NLSDM and emphasizes the necessity of comprehensive clinical evaluation for accurate diagnosis and management.
Authors
- Uluç Yiş
- Bahar Kulu (ORCID: https://orcid.org/0000-0003-2147-9316)
- Pelin Teke Kısa (ORCID: https://orcid.org/0000-0001-6481-3172)
- Hüseyin Bahadır Şenol (ORCID: https://orcid.org/0000-0002-8746-8372)
- Hale Ören (ORCID: https://orcid.org/0000-0001-5760-8007)
- Nur Arslan
Institutions
- Dokuz Eylül University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-10-03
- DOI
- https://doi.org/10.1159/000541285
- Citations
- 1
- Primary Topic
- Lipid metabolism and biosynthesis
- Type
- article
- Field-Weighted Citation Impact
- 0.29