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Article

Targeted Re-Sequencing of Neural Tube Defects Patients and Families Identifies Rare Variants in Genes Candidate From Animal Models.

Birth defects research - 1 Jul 2025

Romano Ferruccio, De Marco Patrizia, Ognibene Marzia, Iacomino Michele, Di Duca Marco, Schiavetti Irene, Scala Marcello, Pavanello Marco, Piatelli Gianluca, Capra Valeria

Abstract excerpt

BACKGROUND/OBJECTIVES: Neural tube defects (NTDs) are congenital malformations arising when the neural tube (NT), precursor of the brain and spine, fails to properly close during neurulation. Etiology is multifactorial, with environmental and genetic factors variably contributing on a case-by-case basis. Molecular genetic studies of murine NTD genes have been precious in the identification of predisposing NTD...

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Identifiers

PMID: 40673637
DOI: 10.1002/bdr2.2507

Genes

GRHL1
WNT5A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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