Condition: Syndactyly Cenani Lenz type
rs267607220
in
LRP4
gene and
Syndactyly Cenani Lenz type
PMID 20381006
2010 LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
PMID 28559208
2017 Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.