Mutational analysis ofPHEX,FGF23andCLCN5in patients with hypophosphataemic rickets-Reference-Cited by-同舟云学术

Mutational analysis ofPHEX,FGF23andCLCN5in patients with hypophosphataemic rickets

Published:2017-05-11 Issue:1 Volume:87 Page:103-112
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Guven Ayla¹²,Al-Rijjal Roua A.³,BinEssa Huda A.³,Dogan Durmuş⁴,Kor Yılmaz⁵,Zou Minjing²,Kaya Namik³,Alenezi Anwar F.³,Hancili Suna¹²,Tarım Ömer⁴,Baitei Essa Y.³,Kattan Walaa E³,Meyer Brian F.³,Shi Yufei³^ORCID

Affiliation:

1. Department of Pediatric; Amasya University Medical Faculty; Amasya Turkey

2. Pediatric Endocrinology Clinic; Goztepe Educational and Research Hospital; Istanbul Turkey

3. Department of Genetics; King Faisal Specialist Hospital & Research Centre; Riyadh Saudi Arabia

4. Department of Pediatrics; Division of Pediatric Endocrinology; Uludag University Faculty of Medicine; Bursa Turkey

5. Pediatric Endocrinology Division; Adana Numune Training and Research Hospital; Adana Turkey

Funder

King Abdulaziz City for Science and Technology

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cen.13347/fullpdf

Reference32 articles.

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

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. Skeletal secretion of FGF-23 regulates phosphate and vitamin D metabolism;Quarles;Nat Rev Endocrinol,2012

5. PHEX, FGF23, DMP1 and beyond;Strom;Curr Opin Nephrol Hypertens,2008

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1. Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay;Frontiers in Genetics;2024-05-22

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4. Identification of six novel variants from nine Chinese families with hypophosphatemic rickets;BMC Medical Genomics;2022-07-16

5. Hypophosphatemic Rickets in Colombia: A Prevalence-Estimation Model in Rare Diseases. 2018;The Lancet Regional Health - Americas;2022-03