Despite significant progress made in identification on numerous genes and gene pathways critical for craniofacial development, several approaches, ie mutation screening of specific candidates, association studies and even genome-wide scans have largely failed to reveal the molecular basis of NS human clefting
Subject with a NSCL/P or CL/P of unknown etiology,
national health care insurance holders
Subject with a CL/P of known etiology,
Subject with a NSCL/P and an IRF6 mutation
Single group
identification of genetic factors
GeneticClinical questionnaire and analysis of genetic data obtained by exome high-throughput sequencing
Identification of genetic factors
Identification of genetic factors implicated in orofacial cleft using whole exome sequencing (WES).
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