Rare missense variants in DVL1, one of the human counterparts of the Drosophila dishevelled gene, do not confer increased risk for neural tube defects

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 97, Issue 7, 2013, Pages 452-455

  Merello, Elisa ^a   Kibar, Zoha ^b   Allache, Redouane ^b   Piatelli, Gianluca ^a   Cama, Armando ^a   Capra, Valeria ^a   De Marco, Patrizia ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

Convergent extension; Dishevelled (DVL); Neural tube defects (NTDs); Planar cell polarity (PCP) pathway

Indexed keywords

DISHEVELLED 1; DISHEVELLED 2; DISHEVELLED PROTEIN;

ARTICLE; BIOINFORMATICS; CHILD; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEURAL TUBE DEFECT; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN STRUCTURE; RISK FACTOR;

CONVERGENT EXTENSION; DISHEVELLED (DVL); NEURAL TUBE DEFECTS (NTDS); PLANAR CELL POLARITY (PCP) PATHWAY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SUBSTITUTION; ANIMALS; CHILD, PRESCHOOL; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MICE; MUTATION, MISSENSE; NEURAL TUBE DEFECTS; PHOSPHOPROTEINS; RISK FACTORS;

ANIMALIA;

EID: 84880698254     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23157     Document Type: Article

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