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Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing

2017-02-28 15:38:22 | BioPortfolio

Summary

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. Moreover, the efficiency of Whole Exome Sequencing -WES- was proven. The efficiency of WES was proven by the identification of the genes causing Freeman Sheldon and Miller's syndrome, followed by several others. In the Picardy region, management and follow-up of orofacial cleft patients are well-organised by a multidisciplinary team in the university hospital of Amiens. The investigators therefore decided to perform whole exome sequencing (WES) on precisely phenotyped non-syndromic CL/P patients followed in our center.

Study Design

Conditions

Cleft Lip and Palate

Intervention

identification of genetic factors

Location

CHU Amiens Picardie
Amiens
France
80054

Status

Recruiting

Source

Centre Hospitalier Universitaire, Amiens

Results (where available)

View Results

Links

Published on BioPortfolio: 2017-02-28T15:38:22-0500

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Medical and Biotech [MESH] Definitions

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Appliances that close a cleft or fissure of the palate.

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