Pathogenic variant in the RALA gene in a patient from North Macedonia with Hiatt-Neu-Cooper syndrome: genotypic and phenotypic spectrum
- 22.10.2025
- Correspondence
- Verfasst von
-
Lјelja Muaremoska Kanzoska
Lјelja Muaremoska Kanzoska
- PHI University Clinic of Child Diseases - Skopje, Skopje, Macedonia
-
Valentina Dukovska
Valentina Dukovska
- PHI University Clinic of Child Diseases - Skopje, Skopje, Macedonia
-
Ana Poposka
Korrespondierender Autor Ana Poposka
- PHI Center for Rehabilitation of Pathology in Verbal Communication - Skopje, Skopje, Macedonia
-
Shpresa Useini Muaremoska
Shpresa Useini Muaremoska
- PHI SHG Mother Teresa Chair – Skopje, Skopje, Macedonia
- Erschienen in
- Acta Neurologica Belgica | Ausgabe 6/2025
Auszug
The Hiatt-Neu-Cooper syndrome (HINCONS) is an extremely rare neurodevelopmental disorder caused by pathogenic variants in the RALA gene. It encodes a small GTPase protein involved in intracellular signaling, cytoskeletal dynamics, and neuronal development [1]. Here reported is the first case of an infant from North Macedonia with a pathogenic variant in the RALA gene, presenting with specific HINCONS features, likely the 15th case reported worldwide. …
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- Titel
- Pathogenic variant in the RALA gene in a patient from North Macedonia with Hiatt-Neu-Cooper syndrome: genotypic and phenotypic spectrum
- Verfasst von
-
Lјelja Muaremoska Kanzoska
Valentina Dukovska
Ana Poposka
Shpresa Useini Muaremoska
- Publikationsdatum
- 22.10.2025
- Verlag
- Springer International Publishing
- Erschienen in
-
Acta Neurologica Belgica / Ausgabe 6/2025
Print ISSN: 0300-9009
Elektronische ISSN: 2240-2993 - DOI
- https://doi.org/10.1007/s13760-025-02925-6
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