A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel ATP7A pathogenic variant (c.4222A > T, p.(Lys1408*)), representing the first nonsense variant and the second late truncation causing OHS rather than classic Menkes disease, was found to...

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Detalles Bibliográficos
Autores principales: Bonati, Maria Teresa, Verde, Federico, Hladnik, Uros, Cattelan, Paola, Campana, Luca, Castronovo, Chiara, Ticozzi, Nicola, Maderna, Luca, Colombrita, Claudia, Papa, Sergio, Banfi, Paolo, Silani, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522958/
https://www.ncbi.nlm.nih.gov/pubmed/28761814
http://dx.doi.org/10.1016/j.ymgmr.2017.07.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522958/
https://www.ncbi.nlm.nih.gov/pubmed/28761814
http://dx.doi.org/10.1016/j.ymgmr.2017.07.007

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