Novel and de novo PHEX mutations in patients with hypophosphatemic rickets-Reference-Cited by-同舟云学术

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Novel and de novo PHEX mutations in patients with hypophosphatemic rickets

Published:2013-01 Issue:1 Volume:52 Page:286-291
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Durmaz Erdem,Zou Minjing,Al-Rijjal Roua A.,Baitei Essa Y.,Hammami Sumaya,Bircan İffet,Akçurin Sema,Meyer Brian,Shi Yufei

Funder

KACST

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference32 articles.

1. Renal phosphate handling in human—what can we learn from hereditary hypophosphataemias?;Amatschek;Eur J Clin Invest,2010

2. New perspectives on the biology and treatment of X-linked hypophosphatemic rickets;Carpenter;Pediatr Clin North Am,1997

3. A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium;Nat Genet,1995

4. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23;Nat Genet,2000

5. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism;Feng;Nat Genet,2006

Cited by 41 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. Characterization of Novel PHEX Variants in X-linked Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation;The Journal of Clinical Endocrinology & Metabolism;2024-03-05

2. The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets: a case report and an analysis of the gene mutation dosage effect in a rat model;Frontiers in Endocrinology;2023-12-05

3. Dental manifestations and treatment of hypophosphatemic rickets: A case report and review of literature;BDJ Open;2023-01-30

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

5. A Case of X-Linked Hypophosphatemic Rickets with Dentin Dysplasia in Mandibular Third Molars;Children;2022-08-28

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