Identification of three novel TCOF1 mutations in patients with Treacher Collins Syndrome

Treacher Collins syndrome (TCS, OMIM 154500), also called mandibulofacial dysostosis (MFD), was described in 1900 and extensively examined by Franceschetti and Klein in 19491.

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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