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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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2014
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Accesso online: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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