DLX4 is associated with orofacial clefting and abnormal jaw development

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 (DLX...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Wu, Di, Mandal, Shyamali, Choi, Alex, Anderson, August, Prochazkova, Michaela, Perry, Hazel, Gil-Da-Silva-Lopes, Vera L., Lao, Richard, Wan, Eunice, Tang, Paul Ling-Fung, Kwok, Pui-yan, Klein, Ophir, Zhuan, Bian, Slavotinek, Anne M.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4492397/
https://ncbi.nlm.nih.gov/pubmed/25954033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv167
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