A Case of FAM111A-Associated Kenny-Caffey Syndrome Type 2 with New Clinical Features: Microtia, Lacunar Skull Appearance, and Arnold-Chiari Malformation
Accurate diagnosis plays a critical role in enhancing clinical awareness, improving patient management, and offering appropriate genetic counseling for affected families.
Authors
- Esra KAYA KILIÇ (ORCID: https://orcid.org/0000-0002-3270-4841)
- Mehmet Reşid Önen (ORCID: https://orcid.org/0000-0003-4353-9068)
- Ayberk Türkyılmaz (ORCID: https://orcid.org/0000-0001-9647-8970)
- Avni Merter Keçeli (ORCID: https://orcid.org/0000-0002-9412-6733)
- Ayşe Burcu Doğan Arı (ORCID: https://orcid.org/0009-0008-3814-564X)
Institutions
- Ministry of Health (TR)
- Karadeniz Technical University (TR)
- University of Health Science (KH)
- Sağlık Bilimleri Üniversitesi (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-12-17
- DOI
- https://doi.org/10.1159/000550125
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.00