Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing

Two siblings with an early onset of a neurodegenerative disease were presented with muscular hypotonia, secondary microcephaly, and severe developmental delay. Seizures were refractory to treatment but could be controlled with a ketogenic diet. Over the course of 5 years, whole exome sequencing (WES...

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Detalles Bibliográficos
Autores principales: Quitmann, Christina M., Rust, Stephan, Reunert, Janine, Biskup, Saskia, Fiedler, Barbara, Marquardt, Thorsten
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8370890/
https://www.ncbi.nlm.nih.gov/pubmed/34423067
http://dx.doi.org/10.1177/2329048X211034969

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8370890/
https://www.ncbi.nlm.nih.gov/pubmed/34423067
http://dx.doi.org/10.1177/2329048X211034969

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