Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
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Ghoumid J, et al. Among authors: frenois f.
Genet Med. 2017 Sep;19(9):1013-1021. doi: 10.1038/gim.2017.11. Epub 2017 Mar 16.
Genet Med. 2017.
PMID: 28301459
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