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Article

FZD6 is a novel gene for human neural tube defects.

Human mutation - 1 Feb 2012

De Marco Patrizia, Merello Elisa, Rossi Andrea, Piatelli Gianluca, Cama Armando, Kibar Zoha, Capra Valeria

Abstract excerpt

Neural tube defects (NTDs) are severe malformations of the central nervous system, affecting 1 of 1,000 live births. Mouse models were instrumental in defining the signaling pathways defective in NTDs, including the planar cell polarity (PCP), also called noncanonical Frizzled/Disheveled pathway. Based on the highly penetrant occurrence of NTDs in double Fzd3/Fzd6(-/-) mutant mice, we investigated the role of the...

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Share to Amino Acid Sequence
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Share to Congenital Anomalies and Fetal Surgery

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

Source

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Identifiers

PMID: 22045688
DOI: 10.1002/humu.21643
PMCID: PMC3482927

Genes

FZD6
FZD3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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