@inbook{1181400216, author={Arthur L. Beaudet and Charles R. Scriver and William S. Sly and David Valle}, editor={Valle, David L. and Antonarakis, Stylianos and Ballabio, Andrea and Beaudet, Arthur L. and Mitchell, Grant A.}, title={Genetics, Biochemistry, and Molecular Bases of Variant Human Phenotypes}, 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=1181400216} }