Correction to: Ma et al. Orphanet Journal of Rare Diseases https://doi.org/10.1186/s13023-018-0853-z

The authors are grateful to the Editor of Orphanet Journal of Rare Diseases for allowing them the opportunity to publish this Correction, and apologize to the readership for any inconvenience caused.

A number of the variant descriptions in Additional file 1 of the original article [1] were not correct because of using different Refseq. The authors have now revised all the variant descriptions by Reference Sequence Database (NM_004006.2) in “Additional file 1” accompanying this Correction, as well as the original article.

All the authors agree to this Correction.