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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
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
Soggetti:
Report
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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi