The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX

被引：0

作者：

Chen Xiang

Tang Meng-Jia

Wan Shan

Zhang Yi

Li Yu-Jue

Yu Xi-Jie

机构：

[1] Chengdu

[2] Department of Endocrinology

[3] Laboratory of Endocrinology and Metabolism

[4] National Clinical Research Center for Geriatrics

[5] Sichuan 610041

[6] Sichuan University

[7] West China Hospital

来源：

中华医学杂志英文版 | 2019年 / 132卷 / 19期

关键词：

D O I：

暂无

中图分类号：

R591.44 [维生素D缺乏病];

学科分类号：

摘要：

To the Editor: We reported a 46-year-old man presented with progressive pain in his left lower extremities for more than 5 years. Physical examination showed short stature, "O" -type bending in his lo

引用

页码：2376 / 2377

页数：2

共 4 条

[1] The paradoxical coexistence of hypophosphatemic rickets and increased bone density in spine of a subject carrying a novel splice site mutation in PHEX
Chen, Xiang
Tang, Meng-Jia
Wan, Shan
Zhang, Yi
Li, Yu-Jue
Yu, Xi-Jie
CHINESE MEDICAL JOURNAL, 2019, 132 (19) : 2376 - 2377
[2] Hypophosphatemic rickets caused by a novel splice donor site mutation and activation of two cryptic splice donor sites in the PHEX gene
Zou, Minjing
Bulus, Derya
Al-Rijjal, Roua A.
Andiran, Nesibe
BinEssa, Huda
Kattan, Walaa E.
Meyer, Brian
Shi, Yufei
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2015, 28 (1-2): : 211 - 216
[3] Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets
Ma, Sara L.
Vega-Warner, Virginia
Gillies, Christopher
Sampson, Matthew G.
Kher, Vijay
Sethi, Sidharth K.
Otto, Edgar A.
PLOS ONE, 2015, 10 (06):
[4] Prenatal Diagnosis for a Novel Splice Mutation of PHEX Gene in a Large Han Chinese Family Affected with X-Linked Hypophosphatemic Rickets
Qiu, Guangrong
Liu, Caixia
Zhou, Jingyi
Liu, Peiyan
Wang, Jun
Jiang, Hongkun
Hou, Zhiyan
Zhao, Yanyan
Sun, Kailai
Li-Ling, Jesse
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2010, 14 (03) : 385 - 391

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