Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets-Reference-Cited by-同舟云学术

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Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

Published:2008-10 Issue:4 Volume:43 Page:663-666
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Ichikawa Shoji,Traxler Elizabeth A.,Estwick Selina A.,Curry Leah R.,Johnson Michelle L.,Sorenson Andrea H.,Imel Erik A.,Econs Michael J.

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference18 articles.

1. Renal phosphate wasting disorders: clinical features and pathogenesis;Brame;Semin. Nephrol.,2004

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

3. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia;Jonsson;N. Engl. J. Med.,2003

4. Increased circulatory level of biologically active full-length FGF-23 in patients with hypophosphatemic rickets/osteomalacia;Yamazaki;J. Clin. Endocrinol. Metab.,2002

5. Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX;Liu;J. Biol. Chem.,2003

Cited by 53 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. Diagnosis and management of X-linked dominant hypophosphatemic rickets;2023-09-22

2. A Case of X-Linked Hypophosphatemia: Exploring the Burden in a Single Family and the Significance of a Multidisciplinary Approach;Archives of Case Reports;2023-09-15

3. X-linked hypophosphatemia in 4 generations due to an exon 13–15 duplication in PHEX, in the absence of the c.*231A>G variant;Bone;2023-07

4. Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report;Journal of Pediatric Endocrinology and Metabolism;2022-11-10

5. X‐Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.*231A>G ; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women;JBMR Plus;2022-11-02

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