"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study".

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Title: "Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study".
Authors: Rijckmans E; Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels, Belgium. Ellen.rijckmans@uzbrussel.be.; Research Group Genetics, Reproduction and Development (GRAD), Vrije Universiteit Brussel, Brussels, Belgium. Ellen.rijckmans@uzbrussel.be.; Center for Medical Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium. Ellen.rijckmans@uzbrussel.be., De Strooper L; Huisartsgeneeskunde, Vrije Universiteit Brussel, Brussels, Belgium., Keymolen K; Research Group Genetics, Reproduction and Development (GRAD), Vrije Universiteit Brussel, Brussels, Belgium.; Center for Medical Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium., Rosenblum J; Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Translational Neurosciences, University of Antwerp, Antwerp, Belgium., Loeys B; Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Meuwissen M; Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Jansen AC; Translational Neurosciences, University of Antwerp, Antwerp, Belgium.; Pediatric Neurology Unit, Department of Pediatrics, Antwerp University Hospital, Antwerp, Belgium., Stouffs K; Research Group Genetics, Reproduction and Development (GRAD), Vrije Universiteit Brussel, Brussels, Belgium.; Molecular Biology Laboratory, Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.
Source: Acta neurologica Belgica [Acta Neurol Belg] 2025 Oct; Vol. 125 (5), pp. 1347-1356. Date of Electronic Publication: 2025 Aug 04.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: Italy NLM ID: 0247035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2240-2993 (Electronic) Linking ISSN: 03009009 NLM ISO Abbreviation: Acta Neurol Belg Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2240-2993
DOI:10.1007/s13760-025-02858-0