Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features

BACKGROUND: Copa syndrome is a rare autosomal dominant disorder with abnormal intracellular vesicle trafficking. The objective of this work is to expand the knowledge about this disorder by delineating phenotypic features of an unreported COPA family. METHODS AND RESULTS: A heterozygous missense var...

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Detalles Bibliográficos
Autores principales: Taveira-DaSilva, Angelo M, Markello, Thomas C, Kleiner, David E, Jones, Amanda M, Groden, Catherine, Macnamara, Ellen, Yokoyama, Tadafumi, Gahl, William A, Gochuico, Bernadette R, Moss, Joel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2019
Materias:
Phenotypes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6860403/
https://www.ncbi.nlm.nih.gov/pubmed/30385646
http://dx.doi.org/10.1136/jmedgenet-2018-105560

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6860403/
https://www.ncbi.nlm.nih.gov/pubmed/30385646
http://dx.doi.org/10.1136/jmedgenet-2018-105560

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