Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: Report of Two Cases and Literature Review
Genotype-phenotype correlations are limited in the literature. We aimed to establish the genotype-phenotype relationship of the novel variants detected and better understand the correlation between the clinical features of focal dermal hypoplasia and the Wnt signaling mechanism.
Authors
- Hüseyîn Çaksen (ORCID: https://orcid.org/0000-0002-8992-4386)
- Özgür Balasar
- Mahmut Gökdemir (ORCID: https://orcid.org/0000-0002-5676-2747)
- Fayize Maden Bedel (ORCID: https://orcid.org/0000-0001-8830-919X)
- Nagehan Bilgeç (ORCID: https://orcid.org/0000-0003-0269-0941)
Institutions
- Necmettin Erbakan University (TR)
- Konya Eğitim ve Araştırma Hastanesi (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-04-02
- DOI
- https://doi.org/10.1159/000545533
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 0.00