Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

doi:10.1038/gim.2017.11

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Article

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2017

Ghoumid Jamal, Stichelbout Morgane, Jourdain Anne-Sophie, Frenois Frederic, Lejeune-Dumoulin Sophie, Alex-Cordier Marie-Pierre, Lebrun Marine, Guerreschi Pierre, Duquennoy-Martinot Veronique, Vinchon Matthieu, Ferri Joel, Jung Matthieu, Vicaire Serge, Vanlerberghe Clemence, Escande Fabienne, Petit Florence, Manouvrier-Hanu Sylvie

Abstract excerpt

PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown. METHODS: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families. RESULTS:...

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Identifiers

PMID: 28301459
DOI: 10.1038/gim.2017.11

Genes

CDH1
CTNND1

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Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.PMID 28301459Read ↗

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