Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases
This study contributes to the growing body of evidence on the expanding phenotypic spectrum of <i>OFD1</i>-associated disorders. It underscores the need for further investigation into the molecular mechanisms underlying the diverse presentations and the necessity of re-evaluating diagnostic classifications for conditions such as SGBS2 in the context of variants in the <i>OFD1</i> gene.
Authors
- Marat R. Avakyan (ORCID: https://orcid.org/0000-0002-5901-8665)
- Anna Demchenko (ORCID: https://orcid.org/0000-0002-4460-7627)
- Maria Bulakh (ORCID: https://orcid.org/0000-0002-8674-7230)
- И. В. Анисимова (ORCID: https://orcid.org/0000-0003-2667-9042)
- Artem O. Borovikov (ORCID: https://orcid.org/0000-0001-5871-8005)
- Е. Е. Брагина (ORCID: https://orcid.org/0000-0002-8422-4962)
- V. Kovalev
- Е. И. Кондратьева (ORCID: https://orcid.org/0000-0001-6395-0407)
- Sergey I. Kutsev (ORCID: https://orcid.org/0000-0002-3133-8018)
- О. П. Рыжкова (ORCID: https://orcid.org/0000-0003-1285-9093)
- Artem Bukhonin (ORCID: https://orcid.org/0009-0006-6612-6695)
- T. A. Kyian (ORCID: https://orcid.org/0000-0001-8281-1162)
- Victoria Zabnenkova
Institutions
- Lomonosov Moscow State University (RU)
- St. Petersburg State Medical Academy "City Hospital No. 26" (RU)
- Research Centre for Medical Genetics (RU)
Publication Details
- Journal
- Genes
- Published
- 2024-12-20
- DOI
- https://doi.org/10.3390/genes15121633
- Citations
- 3
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.70