MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene

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.

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Editor’s Selection on Splicing Variants and Copy Number Variation

Editor’s Selection on Splicing Variants and Copy Number Variation

Human Genome Variation is delighted to present its first Collection for the March 2019 issue. Coordinated by the Editor-in-Chief, Professor Katsushi Tokunaga, this Collection features the latest Data Reports and Articles on the identifications of disease-causing splicing variants and copy number variations.
Collection