@inbook{1165077675, author={David L. Valle and Stylianos Antonarakis and Andrea Ballabio and Arthur L. Beaudet and Grant A. Mitchell}, title={}, booktitle={The Online Metabolic and Molecular Bases of Inherited Disease}, publisher={McGraw-Hill Education}, address={New York, NY}, year={2019}, url={ommbid.mhmedical.com/content.aspx?aid=1165077675} }