ArticleInternational journal of molecular sciences2026
Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.
Anna Szoszkiewicz, Anna Sowińska-Seidler, Aleksandra Wnuk-Kłosińska, Ewelina Bukowska-Olech, Karolina Biel, Karolina Matuszewska, Marcin Biel, Magdalena Badura-Stronka, Renata Glazar, Anna Jakubiuk-Tomaszuk and 5 more
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In one paragraphArticle in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 · Who and what moneyAuthors and funding
15 authors.
Anna SzoszkiewiczDepartment of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.
Anna Sowińska-SeidlerDepartment of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.ORCID 0000-0002-2493-898X Aleksandra Wnuk-KłosińskaDepartment of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.
Ewelina Bukowska-OlechDepartment of Laboratory Diagnostics, Poznan University of Medical Sciences, 60-569 Poznan, Poland.
Karolina BielDepartment of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.
Karolina MatuszewskaDiagnostyka GENESIS, 60-529 Poznan, Poland.
Marcin BielDepartment of Radiology, HCP Medical Center Poznan, 61-485 Poznan, Poland.
Magdalena Badura-StronkaDepartment of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.
Renata GlazarDiagnostyka GENESIS, 60-529 Poznan, Poland.
Anna Jakubiuk-TomaszukDepartment of Neurology and Pediatrics, Medical University of Bialystok, 15-274 Bialystok, Poland.
Maciej KrawczyńskiDepartment of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.ORCID 0000-0002-4268-7707 Krzysztof SzczałubaCenter of Excellence for Rare and Undiagnosed Disorders, Medical University of Warsaw, 02-091 Warsaw, Poland.ORCID 0000-0001-8803-646X Karolina ŚledzińskaDepartment and Clinics of Pediatrics, Hematology and Oncology, Medical University of Gdansk, 80-952 Gdansk, Poland.ORCID 0000-0001-6565-4572 Marzena WiśniewskaDepartment of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.
Aleksander JamsheerDepartment of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.ORCID 0000-0003-4058-3901 Funding
National Science Centre 2020/37/B/NZ5/03693
6 · The paper itselfAbstract
Congenital vertebral malformations (CVMs), affecting approximately 0.5-1 per 1000 live births, occur either in an isolated form or as part of syndromic disorders. Despite the identification of numerous causative genes for CVMs, the molecular etiology of most cases remains unknown. In this study, we applied a three-tiered diagnostic approach (chromosomal microarray analysis, followed by custom gene panel analysis, and exome/genome sequencing) in a cohort of 34 patients with CVMs. We achieved a 12% diagnostic success rate, identifying a deletion upstream of
Indexed as
SpineExome SequencingFemaleHumansMalePhenotypeSOX9 Transcription FactorSOX9 Transcription Factorchromosomal microarray analysisFLNBKabuki syndromeKlippel–Feil syndromenext-generation sequencingSacral agenesis with vertebral anomaliesspinal deformitiesSpondylocarpotarsal synostosis syndrome
Identifiers
PMID41751889
PMCPMC12940558
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