Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis

Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability...

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Autors principals: Smith, Joshua D., Hing, Anne V., Clarke, Christine M., Johnson, Nathan M., Perez, Francisco A., Park, Sarah S., Horst, Jeremy A., Mecham, Brig, Maves, Lisa, Nickerson, Deborah A., Cunningham, Michael L.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4129399/
https://ncbi.nlm.nih.gov/pubmed/25105228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.07.008
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