An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis

An Unusual Case of Rickets and How Whole Exome Sequencing Helped to Correct a Diagnosis

ABSTRACT: Objective: Rickets can be caused by a wide variety of underlying nutritional deficiencies or genetic defects. There is significant overlap in the clinical presentations of the various forms of rickets and the risk for misdiagnosis is great. This report describes a diagnostically challengin...

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Main Authors: Patricia R. Peter, MD, Catherine A. Brownstein, PhD, Gang-Qing Yao, MD, Elizabeth A. Olear, MS, MA, Christine A. Simpson, MS, MT (ASCP), Pankaj B. Agrawal, MD, MMSC, Thomas O. Carpenter, MD, Karl L. Insogna, MD
Format: Article
Language:English
Published: Elsevier 2016-01-01
Series:AACE Clinical Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060520305708

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