Table 5_Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.xlsx

Introduction<p>Idiopathic scoliosis (IS) is a complex spinal deformity affecting ~3% of the population, with a multifactorial and genetically heterogeneous origin. This study aimed to investigate the genetic origins of severe IS by examining both constitutional and post-zygotic alterations.<...

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Bibliographic Details
Main Author:	Monika Horbacz (12368996) (author)
Other Authors:	Magdalena Koczkowska (3843919) (author), Marek Rocławski (11414093) (author), Marcin Ceynowa (7309964) (author), Piotr Madanecki (560221) (author), Daniil Sarkisyan (22489597) (author), Jakub Mieczkowski (148639) (author), Karolina Śledzińska (22489600) (author), Jan P. Dumanski (12369104) (author), Rafał Pankowski (11414102) (author), Arkadiusz Piotrowski (68213) (author)
Published:	2025
Subjects:	Foetal Development and Medicine idiopathic scoliosis whole exome sequencing candidate variants SNP array FLNB ENAM
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Table 5_Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.xlsx

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