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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2021-07-01
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| Series: | Child Neurology Open |
| Online Access: | https://doi.org/10.1177/2329048X211034969 |