@inbook{1181400952, author={Gerardo Jimenez-Sanchez and Barton Childs and David Valle}, editor={Valle, David L. and Antonarakis, Stylianos and Ballabio, Andrea and Beaudet, Arthur L. and Mitchell, Grant A.}, title={The Effect of Mendelian Disease on Human Health}, 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=1181400952} }