ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder

Mutations in the short‐chain enoyl‐CoA hydratase (SCEH) gene, ECHS1, cause a rare autosomal recessive disorder of valine catabolism. Patients usually present with developmental delay, regression, dystonia, feeding difficulties, and abnormal MRI with bilateral basal ganglia involvement. We present cl...

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Detalles Bibliográficos
Autores principales: Simon, Mariella T., Eftekharian, Shaya S., Ferdinandusse, Sacha, Tang, Sha, Naseri, Take, Reupena, Muagututi'a Sefuiva, McGarvey, Stephen T., Minster, Ryan L., Weeks, Daniel E., Nguyen, Daniel D., Lee, Sansan, Ellsworth, Katarzyna A., Vaz, Frédéric M., Dimmock, David, Pitt, James, Abdenur, Jose E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7746601/
https://www.ncbi.nlm.nih.gov/pubmed/33112498
http://dx.doi.org/10.1002/ajmg.a.61936

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