Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature
In cases of multisystem involvement, consanguineous marriage, and multiple affected family members, patients may develop very rare diseases, such as dyskeratosis congenita, and physicians should be aware that new clinical findings may emerge during long-term follow-up, the diagnosis of which may count on genome sequencing.
Authors
- Duygu Duman (ORCID: https://orcid.org/0000-0001-7583-0349)
- Güney Bademci (ORCID: https://orcid.org/0000-0002-4052-8833)
- Fatma Tuba Eminoğlu (ORCID: https://orcid.org/0000-0002-5880-1113)
- İlknur Sürücü Kara (ORCID: https://orcid.org/0000-0001-7842-9278)
- Mustafa Tekin
Institutions
- University of Miami (US)
- Ankara University (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2024-12-24
- DOI
- https://doi.org/10.1159/000543315
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00