Genotype-Phenotype Correlation in Lipoid Proteinosis: 15 Cases from Turkiye
Our study observed diverse variations in LP cases among the Turkish population, with varying clinical presentation even among individuals with identical variations within the same family. In our series, the lack of correlation between genotype and phenotype makes providing specific genetic counseling to families challenging.
Authors
- Bülent Uyanık (ORCID: https://orcid.org/0000-0002-1714-3740)
- Bülent Kara (ORCID: https://orcid.org/0000-0003-3780-6596)
- Hülya Kayserili (ORCID: https://orcid.org/0000-0003-0376-499X)
- Firdevs Dinçsoy Bir (ORCID: https://orcid.org/0009-0009-2187-1554)
- Zehra Oya Uyguner (ORCID: https://orcid.org/0000-0002-2035-4338)
- Nesimi Bűyúkbabani (ORCID: https://orcid.org/0000-0003-0472-4826)
- Güven Toksoy (ORCID: https://orcid.org/0000-0002-8103-9980)
- Beyhan Tüysüz (ORCID: https://orcid.org/0000-0002-9620-5021)
- Birsen Karaman (ORCID: https://orcid.org/0000-0001-8640-0176)
- Asuman Gedikbaşı (ORCID: https://orcid.org/0000-0001-7121-6077)
- Can Baykal (ORCID: https://orcid.org/0000-0001-6004-3166)
Institutions
- Koç University (TR)
- Bezmiâlem Vakıf Üniversitesi (TR)
- Memorial Ankara Hospital (TR)
- Istanbul University-Cerrahpaşa (TR)
- Kocaeli Üniversitesi (TR)
- Istanbul University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-11-19
- DOI
- https://doi.org/10.1159/000542675
- Citations
- 1
- Primary Topic
- Systemic Lupus Erythematosus Research
- Type
- article
- Field-Weighted Citation Impact
- 0.47