PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Endocrinology and Metabolism10.3803/enm.2014.29.2.1952014292195A NovelPHEXGene Mutation in a Patient with Sporadic Hypophosphatemic RicketsYea Eun Kang, Jun Hwa Hong, Jimin Kim, Kyong Hye Joung, Hyun Jin Kim, Bon Jeong Ku, Koon Soon Kimhttps://synapse.koreamed.org/DOIx.php?id=10.3803/EnM.2014.29.2.195, https://synapse.koreamed.org/pdf/10.3803/EnM.2014.29.2.195, http://synapse.koreamed.org/DOIx.php?id=10.3803/EnM.2014.29.2.195
Nephron Physiology10.1159/00031931820101163p17-p21Novel PHEX Gene Mutation Associated with X Linked Hypophosphatemic RicketsM. Chandran, C.L. Chng, Y. Zhao, Y.M. Bee, L.Y. Phua, B.L. Clarkehttps://www.karger.com/Article/Pdf/319318, https://www.karger.com/Article/Pdf/319318
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
Nephron Physiology10.1159/00010148720071061p8-p12Novel PHEX Mutation Associated with Hypophosphatemic RicketsKatharina M. Roetzer, Franz Varga, Elisabeth Zwettler, Kamilla Nawrot-Wawrzyniak, Joerg Haller, Ernst Forster, Klaus Klaushoferhttps://www.karger.com/Article/Pdf/101487, https://www.karger.com/Article/Pdf/101487
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
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
Case Reports in Genetics10.1155/2015/301264201520151-5A NovelPHEXMutation in Japanese Patients with X-Linked Hypophosphatemic RicketsTetsuya Kawahara, Hiromi Watanabe, Risa Omae, Toshiyuki Yamamoto, Tetsuya Inazuhttp://downloads.hindawi.com/journals/crig/2015/301264.pdf, http://downloads.hindawi.com/journals/crig/2015/301264.xml, http://downloads.hindawi.com/journals/crig/2015/301264.pdf