7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy
Through detailed genetic analyses, we are improving the clinical description of the rare 7p22.3 microdeletion and thus creating a basis for future genetic counseling and research into targeted therapies.
Authors
- Ozada Khamdiyeva (ORCID: https://orcid.org/0000-0002-3990-4512)
- Кира Беспалова (ORCID: https://orcid.org/0000-0001-8031-447X)
- Anastassiya Perfilyeva (ORCID: https://orcid.org/0000-0003-2121-0042)
- Liliya Skvortsova (ORCID: https://orcid.org/0000-0002-2035-2244)
- Yelena Kuzovleva (ORCID: https://orcid.org/0000-0002-3727-4430)
- Nailya Kabysheva
Institutions
- Al-Farabi Kazakh National University (KZ)
- Laboratory of Molecular Genetics (PL)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-08-16
- DOI
- https://doi.org/10.1186/s13023-024-03321-8
- Citations
- 3
- Primary Topic
- Williams Syndrome Research
- Type
- article
- Field-Weighted Citation Impact
- 1.23