Abstract

According to the American College of Medical Genetics and Genomics guidelines (2015), this mutation is predicted to be pathogenic (PVS1 + PM2 + PP1 + PP3). Funding This work was supported by grants from the National Natural Science Foundation of China (Nos. 81770875 and 81572639), the Science and Technology Department of Sichuan Province (No. 2018SZ0142), Sichuan University (No. 2018SCUH0093), and the National Clinical Research Center for Geriatrics of West China Hospital (No. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's Website (www.cmj.org).Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.

Details

Title
The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX
Author
Chen, Xiang; Meng-Jia, Tang; Wan, Shan; Zhang, Yi; Yu-Jue, Li; Xi-Jie, Yu
Pages
2376-2377
Section
Correspondence
Publication year
2019
Publication date
Oct 2019
Publisher
Lippincott Williams & Wilkins Ovid Technologies
ISSN
03666999
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2502606362
Copyright
Copyright © 2019 The Chinese Medical Association, produced by Wolters Kluwer, Inc. under the CC-BY-NC-ND license. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0 (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.