Double Genetic Diagnosis Involving MECP2 and EPHB4 in a Child with Neurodevelopmental Delay and Vascular Anomalies: A Case Report
This case underscores the diagnostic value of considering dual genetic diagnoses in patients with complex phenotypes and highlights the role of WES in uncovering multilocus variation, thereby expanding the known phenotypic spectrum associated with <i>MECP2</i> and <i>EPHB4</i> mutations.
Authors
- Aslıhan Sanrı (ORCID: https://orcid.org/0000-0003-1898-0898)
- Mehmet Burak Mutlu (ORCID: https://orcid.org/0000-0001-7745-8165)
Institutions
- Samsun University (TR)
- Kayseri Eğitim ve Araştırma Hastanesi (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-10-23
- DOI
- https://doi.org/10.1159/000549131
- Citations
- 1
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.82