Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability

Congenital hypothyroidism (CH) is one of the most common hereditary disorders affecting neonates worldwide. 

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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.
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