Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3-Reference-Cited by-同舟云学术

Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

Published:2018-03-05 Issue:3 Volume:13 Page:e0193388
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Acar Sezer,BinEssa Huda A.,Demir Korcan,Al-Rijjal Roua A.,Zou Minjing,Çatli Gönül,Anık Ahmet,Al-Enezi Anwar F.,Özışık Seçil,Al-Faham Manar S. A.,Abacı Ayhan,Dündar Bumin,Kattan Walaa E.,Alsagob Maysoon,Kavukçu Salih,Tamimi Hamdi E.,Meyer Brian F.,Böber Ece,Shi Yufei^ORCID

Funder

King Abdulaziz City for Science and Technology

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference45 articles.

1. Incidence and prevalence of nutritional and hereditary rickets in southern Denmark;SS Beck-Nielsen;Eur J Endocrinol,2009

2. Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets;S Capelli;Bone,2015

3. Phosphate homeostasis and genetic mutations of familial hypophosphatemic rickets;NN Razali;J Pediatr Endocrinol Metab,2015

4. Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation;M Bastepe;Rev Endocr Metab Disord,2008

5. Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets;SS Beck-Nielsen;J Hum Genet,2012

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis;Pediatric Nephrology;2024-09-10

2. SLC34 mutation: Personal experience with six families and literature review;2024-07-18

3. Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets;Bone Reports;2024-06

4. Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care;JBMR Plus;2023-05

5. Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets;Italian Journal of Pediatrics;2022-12-08