PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Journal of Endocrinological Investigation10.1007/s40618-018-0976-z2018423357-359Identification a novel insertion PHEX mutation in a sporadic patient with hypophosphatemic ricketsP. Jin, L. H. Wang, Z. H. Mohttp://link.springer.com/article/10.1007/s40618-018-0976-z/fulltext.html, http://link.springer.com/content/pdf/10.1007/s40618-018-0976-z.pdf, http://link.springer.com/content/pdf/10.1007/s40618-018-0976-z.pdf
Journal of the Endocrine Society10.1210/jendso/bvaa046.64520204Supplement_1SAT-373 A Case of X Linked Hypophosphatemic Rickets Due to DE Novo Phex Gene MutationAhmed Badran, Renee Bargmanhttp://academic.oup.com/jes/article-pdf/4/Supplement_1/SAT-373/33188797/bvaa046.645.pdf, http://academic.oup.com/jes/article-pdf/4/Supplement_1/SAT-373/33188797/bvaa046.645.pdf
Human Mutation10.1002/(sici)1098-1004(200004)15:4<383::aid-humu18>3.0.co;2-#2000154383-384Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic ricketsHenna Tyynismaa, Ilkka Kaitila, Kirsti Näntö‐Salonen, Marja Ala‐Houhala, Tiina Alitalohttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1098-1004(200004)15:4%3C383::AID-HUMU18%3E3.0.CO;2-#, https://onlinelibrary.wiley.com/doi/pdf/10.1002/%28SICI%291098-1004%28200004%2915%3A4%3C383%3A%3AAID-HUMU18%3E3.0.CO%3B2-%23, https://onlinelibrary.wiley.com/doi/pdf/10.1002/%28SICI%291098-1004%28200004%2915%3A4%3C383%3A%3AAID-HUMU18%3E3.0.CO%3B2-%23
Bone10.1016/j.bone.2007.04.0822007406S62A novel mutation of PHEX causes a dominant X-linked hypophosphatemic ricketsL. Masi, S. Carbonell Sala, A. Gozzini, I. Pela, E. Luzi, F. Franceschelli, A. Tanini, M. Brandihttps://api.elsevier.com/content/article/PII:S875632820700258X?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S875632820700258X?httpAccept=text/plain
Annals of Pediatric Endocrinology & Metabolism10.6065/apem.2018.23.4.2292018234229-234A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic ricketsMisun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jinhttp://e-apem.org/upload/pdf/apem-2018-23-4-229.pdf, http://e-apem.org/journal/view.php?doi=10.6065/apem.2018.23.4.229, http://e-apem.org/upload/pdf/apem-2018-23-4-229.pdf
The Application of Clinical Genetics10.2147/tacg.s2324482020Volume 1357-62

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country

Jessica María Forero-Delgadillo, Daniela Cleves, Vanessa Ochoa, Hernando Londoño-Correa, Jaime Manuel Restrepo, José Antonio Nastasi-Catanese, Harry Pachajoahttps://www.dovepress.com/getfile.php?fileID=56107, https://www.dovepress.com/getfile.php?fileID=56107
Clinical Endocrinology10.1111/j.1365-2265.2010.03919.x2011743312-318Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic ricketsMary D. Ruppe, Patrick G. Brosnan, Kit Sing Au, Phong X. Tran, Barbara W. Dominguez, Hope Northruphttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2265.2010.03919.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2010.03919.x/fullpdf
Journal of Cellular Biochemistry10.1002/jcb.24115201211372432-2441A novel Phex mutation in a new mouse model of hypophosphatemic ricketsCeleste Owen, Frieda Chen, Ann M. Flenniken, Lucy R. Osborne, Shoji Ichikawa, S. Lee Adamson, Janet Rossant, Jane E. Aubinhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fjcb.24115, http://onlinelibrary.wiley.com/wol1/doi/10.1002/jcb.24115/fullpdf
Gene10.1016/j.gene.2015.03.06620155651150-154Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic ricketsYanru Huang, Libin Mei, Qian Pan, Hu Tan, Yi Quan, Baoheng Gui, Jiazhen Chang, Ruiyu Ma, Ying Peng, Pu Yang, Desheng Liang, Lingqian Wuhttps://api.elsevier.com/content/article/PII:S0378111915003728?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0378111915003728?httpAccept=text/plain
Bone10.1016/j.bone.2017.10.002201810630-34Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalaciaKatarzyna Goljanek-Whysall, Andreas Tridimas, Rachel McCormick, Nicki-Jayne Russell, Melissa Sloman, Alan Sorani, William D. Fraser, Fadil M. Hannanhttps://api.elsevier.com/content/article/PII:S8756328217303605?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S8756328217303605?httpAccept=text/plain