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DLX4is associated with orofacial clefting and abnormal jaw development

7 May 2015

Abstract excerpt

Cleft lip and/or palate (CL/P) are common structural birth defects in humans. We used exome sequencing to study a patient with bilateral CL/P and identified a single nucleotide deletion in the patient and her similarly affected son—c.546_546delG, predicting p.Gln183Argfs*57 in the Distal-less 4 (DLX4) gene. The sequence variant was absent from databases, predicted to be deleterious and was verified by Sanger...

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PMID: 25954033
DOI: 10.1093/hmg/ddv167

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