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Article

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.

International journal of molecular sciences - 11 Feb 2026

Szoszkiewicz Anna, Sowińska-Seidler Anna, Wnuk-Kłosińska Aleksandra, Bukowska-Olech Ewelina, Biel Karolina, Matuszewska Karolina, Biel Marcin, Badura-Stronka Magdalena, Glazar Renata, Jakubiuk-Tomaszuk Anna, Krawczyński Maciej, Szczałuba Krzysztof, Śledzińska Karolina, Wiśniewska Marzena, Jamsheer Aleksander

Abstract excerpt

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,...

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Identifiers

PMID: 41751889
DOI: 10.3390/ijms27041752
PMCID: PMC12940558

Genes

FLNB
KMT2D
NSD2
SOX9
TBXT

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