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Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome
Orofaciodigital syndrome (OFD) is a recognized clinical entity with core defining features in the mouth, face, and digits, in addition to various other features that have been proposed to define distinct subtypes. The three genes linked to OFD—OFD1, TMEM216, and TCTN3—play a role in ciliary biology,...
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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3769930/ https://ncbi.nlm.nih.gov/pubmed/23972372 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.07.012 |
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