Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome

Steel syndrome, which is characterized by short stature, hip dislocation, radial head dislocation, and carpal coalition, was first described in 23 Puerto Rican children.

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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