MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene
Abstract MCT8 deficiency is an X-linked recessive disorder. We report the case of a 2-year-old Japanese boy with MCT8 deficiency caused by a novel frameshift variant, NM_006517.5(SLC16A2_v001):c.966dup [p.(Ile323Hisfs*57)]. He presented no head control and spoke no meaningful words, indicating sever...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2021-02-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-021-00142-0 |