De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy

BACKGROUND: Profiling the entire genome at base pair resolution in a single test offers novel insights into disease by means of dissection of genetic contributors to phenotypic features. METHODS: We performed genome sequencing for a patient who presented with atypical hereditary sensory and autonomi...

Descripción completa

Detalles Bibliográficos
Autores principales: Tarailo‐Graovac, Maja, Zahir, Farah R., Zivkovic, Irena, Moksa, Michelle, Selby, Kathryn, Sinha, Sunita, Nislow, Corey, Stockler‐Ipsiroglu, Sylvia G., Sheffer, Ruth, Saada‐Reisch, Ann, Friedman, Jan M., van Karnebeek, Clara D. M., Horvath, Gabriella A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785439/
https://www.ncbi.nlm.nih.gov/pubmed/31475481
http://dx.doi.org/10.1002/mgg3.961

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785439/
https://www.ncbi.nlm.nih.gov/pubmed/31475481
http://dx.doi.org/10.1002/mgg3.961

Ejemplares similares